SNP Links for Protein (Select 1034583588) - SNP

Links from Protein

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Select item 14907075231.

rs1490707523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:30631044 (GRCh38)
13:31205181 (GRCh37)
Canonical SPDI:: NC_000013.11:30631043:T:C
Gene:: USPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30631044T>C, NC_000013.10:g.31205181T>C, NM_005800.5:c.438T>C, NM_005800.4:c.438T>C, XM_006719751.5:c.420T>C, XM_006719751.4:c.420T>C, XM_006719751.3:c.420T>C, XM_006719751.2:c.420T>C, XM_006719751.1:c.420T>C, XM_017020314.3:c.438T>C, XM_017020314.2:c.438T>C, XM_017020314.1:c.438T>C, NM_001321532.2:c.-106T>C, NM_001321532.1:c.-106T>C, XM_017020315.2:c.-106T>C, XM_017020315.1:c.-106T>C, XM_047430027.1:c.438T>C, XM_047430029.1:c.420T>C, XM_047430030.1:c.-106T>C, XM_047430028.1:c.438T>C, XM_047430031.1:c.-106T>C, XM_047430032.1:c.-106T>C

Select item 14906816772.

rs1490681677 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:30642699 (GRCh38)
13:31216836 (GRCh37)
Canonical SPDI:: NC_000013.11:30642698:C:T
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000045/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30642699C>T, NC_000013.10:g.31216836C>T, NM_005800.5:c.1054C>T, NM_005800.4:c.1054C>T, XM_006719751.5:c.1036C>T, XM_006719751.4:c.1036C>T, XM_006719751.3:c.1036C>T, XM_006719751.2:c.1036C>T, XM_006719751.1:c.1036C>T, XM_017020314.3:c.940C>T, XM_017020314.2:c.940C>T, XM_017020314.1:c.940C>T, NM_001321532.2:c.511C>T, NM_001321532.1:c.511C>T, XM_017020315.2:c.397C>T, XM_017020315.1:c.397C>T, NM_001321533.2:c.67C>T, NM_001321533.1:c.67C>T, NM_001321534.2:c.67C>T, NM_001321534.1:c.67C>T, XM_047430027.1:c.1054C>T, XM_047430029.1:c.1036C>T, XM_047430030.1:c.511C>T, XM_047430028.1:c.1054C>T, XM_047430031.1:c.511C>T, XM_047430032.1:c.511C>T

Select item 14906254963.

rs1490625496 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30659227 (GRCh38)
13:31233364 (GRCh37)
Canonical SPDI:: NC_000013.11:30659226:A:G
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000013.11:g.30659227A>G, NC_000013.10:g.31233364A>G, NM_005800.5:c.3150A>G, NM_005800.4:c.3150A>G, XM_006719751.5:c.3132A>G, XM_006719751.4:c.3132A>G, XM_006719751.3:c.3132A>G, XM_006719751.2:c.3132A>G, XM_006719751.1:c.3132A>G, XM_017020314.3:c.3036A>G, XM_017020314.2:c.3036A>G, XM_017020314.1:c.3036A>G, NM_001321532.2:c.2607A>G, NM_001321532.1:c.2607A>G, XM_017020315.2:c.2493A>G, XM_017020315.1:c.2493A>G, NM_001321533.2:c.2163A>G, NM_001321533.1:c.2163A>G, NM_001321534.2:c.2163A>G, NM_001321534.1:c.2163A>G, XM_047430027.1:c.3150A>G, XM_047430029.1:c.3132A>G, XM_047430030.1:c.2607A>G, XM_047430028.1:c.3150A>G, XM_047430031.1:c.2607A>G, XM_047430032.1:c.*1735A>G

Select item 14896048554.

rs1489604855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:30657662 (GRCh38)
13:31231799 (GRCh37)
Canonical SPDI:: NC_000013.11:30657661:G:A
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30657662G>A, NC_000013.10:g.31231799G>A, NM_005800.5:c.1585G>A, NM_005800.4:c.1585G>A, XM_006719751.5:c.1567G>A, XM_006719751.4:c.1567G>A, XM_006719751.3:c.1567G>A, XM_006719751.2:c.1567G>A, XM_006719751.1:c.1567G>A, XM_017020314.3:c.1471G>A, XM_017020314.2:c.1471G>A, XM_017020314.1:c.1471G>A, NM_001321532.2:c.1042G>A, NM_001321532.1:c.1042G>A, XM_017020315.2:c.928G>A, XM_017020315.1:c.928G>A, NM_001321533.2:c.598G>A, NM_001321533.1:c.598G>A, NM_001321534.2:c.598G>A, NM_001321534.1:c.598G>A, XM_047430027.1:c.1585G>A, XM_047430029.1:c.1567G>A, XM_047430030.1:c.1042G>A, XM_047430028.1:c.1585G>A, XM_047430031.1:c.1042G>A, XM_047430032.1:c.*170G>A, NP_005791.3:p.Val529Ile, XP_006719814.1:p.Val523Ile, XP_016875803.1:p.Val491Ile, NP_001308461.1:p.Val348Ile, XP_016875804.1:p.Val310Ile, NP_001308462.1:p.Val200Ile, NP_001308463.1:p.Val200Ile, XP_047285983.1:p.Val529Ile, XP_047285985.1:p.Val523Ile, XP_047285986.1:p.Val348Ile, XP_047285984.1:p.Val529Ile, XP_047285987.1:p.Val348Ile

Select item 14888654005.

rs1488865400 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:30659220 (GRCh38)
13:31233357 (GRCh37)
Canonical SPDI:: NC_000013.11:30659219:T:C
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000013.11:g.30659220T>C, NC_000013.10:g.31233357T>C, NM_005800.5:c.3143T>C, NM_005800.4:c.3143T>C, XM_006719751.5:c.3125T>C, XM_006719751.4:c.3125T>C, XM_006719751.3:c.3125T>C, XM_006719751.2:c.3125T>C, XM_006719751.1:c.3125T>C, XM_017020314.3:c.3029T>C, XM_017020314.2:c.3029T>C, XM_017020314.1:c.3029T>C, NM_001321532.2:c.2600T>C, NM_001321532.1:c.2600T>C, XM_017020315.2:c.2486T>C, XM_017020315.1:c.2486T>C, NM_001321533.2:c.2156T>C, NM_001321533.1:c.2156T>C, NM_001321534.2:c.2156T>C, NM_001321534.1:c.2156T>C, XM_047430027.1:c.3143T>C, XM_047430029.1:c.3125T>C, XM_047430030.1:c.2600T>C, XM_047430028.1:c.3143T>C, XM_047430031.1:c.2600T>C, XM_047430032.1:c.*1728T>C, NP_005791.3:p.Val1048Ala, XP_006719814.1:p.Val1042Ala, XP_016875803.1:p.Val1010Ala, NP_001308461.1:p.Val867Ala, XP_016875804.1:p.Val829Ala, NP_001308462.1:p.Val719Ala, NP_001308463.1:p.Val719Ala, XP_047285983.1:p.Val1048Ala, XP_047285985.1:p.Val1042Ala, XP_047285986.1:p.Val867Ala, XP_047285984.1:p.Val1048Ala, XP_047285987.1:p.Val867Ala

Select item 14878211756.

rs1487821175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:30657659 (GRCh38)
13:31231796 (GRCh37)
Canonical SPDI:: NC_000013.11:30657658:C:A,NC_000013.11:30657658:C:T
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000013.11:g.30657659C>A, NC_000013.11:g.30657659C>T, NC_000013.10:g.31231796C>A, NC_000013.10:g.31231796C>T, NM_005800.5:c.1582C>A, NM_005800.5:c.1582C>T, NM_005800.4:c.1582C>A, NM_005800.4:c.1582C>T, XM_006719751.5:c.1564C>A, XM_006719751.5:c.1564C>T, XM_006719751.4:c.1564C>A, XM_006719751.4:c.1564C>T, XM_006719751.3:c.1564C>A, XM_006719751.3:c.1564C>T, XM_006719751.2:c.1564C>A, XM_006719751.2:c.1564C>T, XM_006719751.1:c.1564C>A, XM_006719751.1:c.1564C>T, XM_017020314.3:c.1468C>A, XM_017020314.3:c.1468C>T, XM_017020314.2:c.1468C>A, XM_017020314.2:c.1468C>T, XM_017020314.1:c.1468C>A, XM_017020314.1:c.1468C>T, NM_001321532.2:c.1039C>A, NM_001321532.2:c.1039C>T, NM_001321532.1:c.1039C>A, NM_001321532.1:c.1039C>T, XM_017020315.2:c.925C>A, XM_017020315.2:c.925C>T, XM_017020315.1:c.925C>A, XM_017020315.1:c.925C>T, NM_001321533.2:c.595C>A, NM_001321533.2:c.595C>T, NM_001321533.1:c.595C>A, NM_001321533.1:c.595C>T, NM_001321534.2:c.595C>A, NM_001321534.2:c.595C>T, NM_001321534.1:c.595C>A, NM_001321534.1:c.595C>T, XM_047430027.1:c.1582C>A, XM_047430027.1:c.1582C>T, XM_047430029.1:c.1564C>A, XM_047430029.1:c.1564C>T, XM_047430030.1:c.1039C>A, XM_047430030.1:c.1039C>T, XM_047430028.1:c.1582C>A, XM_047430028.1:c.1582C>T, XM_047430031.1:c.1039C>A, XM_047430031.1:c.1039C>T, XM_047430032.1:c.*167C>A, XM_047430032.1:c.*167C>T, NP_005791.3:p.Pro528Thr, NP_005791.3:p.Pro528Ser, XP_006719814.1:p.Pro522Thr, XP_006719814.1:p.Pro522Ser, XP_016875803.1:p.Pro490Thr, XP_016875803.1:p.Pro490Ser, NP_001308461.1:p.Pro347Thr, NP_001308461.1:p.Pro347Ser, XP_016875804.1:p.Pro309Thr, XP_016875804.1:p.Pro309Ser, NP_001308462.1:p.Pro199Thr, NP_001308462.1:p.Pro199Ser, NP_001308463.1:p.Pro199Thr, NP_001308463.1:p.Pro199Ser, XP_047285983.1:p.Pro528Thr, XP_047285983.1:p.Pro528Ser, XP_047285985.1:p.Pro522Thr, XP_047285985.1:p.Pro522Ser, XP_047285986.1:p.Pro347Thr, XP_047285986.1:p.Pro347Ser, XP_047285984.1:p.Pro528Thr, XP_047285984.1:p.Pro528Ser, XP_047285987.1:p.Pro347Thr, XP_047285987.1:p.Pro347Ser

Select item 14876499617.

rs1487649961 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 13:30658422 (GRCh38)
13:31232559 (GRCh37)
Canonical SPDI:: NC_000013.11:30658421:C:A
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30658422C>A, NC_000013.10:g.31232559C>A, NM_005800.5:c.2345C>A, NM_005800.4:c.2345C>A, XM_006719751.5:c.2327C>A, XM_006719751.4:c.2327C>A, XM_006719751.3:c.2327C>A, XM_006719751.2:c.2327C>A, XM_006719751.1:c.2327C>A, XM_017020314.3:c.2231C>A, XM_017020314.2:c.2231C>A, XM_017020314.1:c.2231C>A, NM_001321532.2:c.1802C>A, NM_001321532.1:c.1802C>A, XM_017020315.2:c.1688C>A, XM_017020315.1:c.1688C>A, NM_001321533.2:c.1358C>A, NM_001321533.1:c.1358C>A, NM_001321534.2:c.1358C>A, NM_001321534.1:c.1358C>A, XM_047430027.1:c.2345C>A, XM_047430029.1:c.2327C>A, XM_047430030.1:c.1802C>A, XM_047430028.1:c.2345C>A, XM_047430031.1:c.1802C>A, XM_047430032.1:c.*930C>A, NP_005791.3:p.Thr782Asn, XP_006719814.1:p.Thr776Asn, XP_016875803.1:p.Thr744Asn, NP_001308461.1:p.Thr601Asn, XP_016875804.1:p.Thr563Asn, NP_001308462.1:p.Thr453Asn, NP_001308463.1:p.Thr453Asn, XP_047285983.1:p.Thr782Asn, XP_047285985.1:p.Thr776Asn, XP_047285986.1:p.Thr601Asn, XP_047285984.1:p.Thr782Asn, XP_047285987.1:p.Thr601Asn

Select item 14875442068.

rs1487544206 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:30659077 (GRCh38)
13:31233214 (GRCh37)
Canonical SPDI:: NC_000013.11:30659076:T:C
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000013.11:g.30659077T>C, NC_000013.10:g.31233214T>C, NM_005800.5:c.3000T>C, NM_005800.4:c.3000T>C, XM_006719751.5:c.2982T>C, XM_006719751.4:c.2982T>C, XM_006719751.3:c.2982T>C, XM_006719751.2:c.2982T>C, XM_006719751.1:c.2982T>C, XM_017020314.3:c.2886T>C, XM_017020314.2:c.2886T>C, XM_017020314.1:c.2886T>C, NM_001321532.2:c.2457T>C, NM_001321532.1:c.2457T>C, XM_017020315.2:c.2343T>C, XM_017020315.1:c.2343T>C, NM_001321533.2:c.2013T>C, NM_001321533.1:c.2013T>C, NM_001321534.2:c.2013T>C, NM_001321534.1:c.2013T>C, XM_047430027.1:c.3000T>C, XM_047430029.1:c.2982T>C, XM_047430030.1:c.2457T>C, XM_047430028.1:c.3000T>C, XM_047430031.1:c.2457T>C, XM_047430032.1:c.*1585T>C

Select item 14873686699.

rs1487368669 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTAAAACTTCGT>- [Show Flanks]
Chromosome:: 13:30658745 (GRCh38)
13:31232882 (GRCh37)
Canonical SPDI:: NC_000013.11:30658735:AAACTTCGTCTAAAACTTCGT:AAACTTCGT
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: AAACTTCGT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000013.11:g.30658745_30658756del, NC_000013.10:g.31232882_31232893del, NM_005800.5:c.2668_2679del, NM_005800.4:c.2668_2679del, XM_006719751.5:c.2650_2661del, XM_006719751.4:c.2650_2661del, XM_006719751.3:c.2650_2661del, XM_006719751.2:c.2650_2661del, XM_006719751.1:c.2650_2661del, XM_017020314.3:c.2554_2565del, XM_017020314.2:c.2554_2565del, XM_017020314.1:c.2554_2565del, NM_001321532.2:c.2125_2136del, NM_001321532.1:c.2125_2136del, XM_017020315.2:c.2011_2022del, XM_017020315.1:c.2011_2022del, NM_001321533.2:c.1681_1692del, NM_001321533.1:c.1681_1692del, NM_001321534.2:c.1681_1692del, NM_001321534.1:c.1681_1692del, XM_047430027.1:c.2668_2679del, XM_047430029.1:c.2650_2661del, XM_047430030.1:c.2125_2136del, XM_047430028.1:c.2668_2679del, XM_047430031.1:c.2125_2136del, XM_047430032.1:c.*1253_*1264del, NP_005791.3:p.Leu890_Arg893del, XP_006719814.1:p.Leu884_Arg887del, XP_016875803.1:p.Leu852_Arg855del, NP_001308461.1:p.Leu709_Arg712del, XP_016875804.1:p.Leu671_Arg674del, NP_001308462.1:p.Leu561_Arg564del, NP_001308463.1:p.Leu561_Arg564del, XP_047285983.1:p.Leu890_Arg893del, XP_047285985.1:p.Leu884_Arg887del, XP_047285986.1:p.Leu709_Arg712del, XP_047285984.1:p.Leu890_Arg893del, XP_047285987.1:p.Leu709_Arg712del

Select item 148695016410.

rs1486950164 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:30658306 (GRCh38)
13:31232443 (GRCh37)
Canonical SPDI:: NC_000013.11:30658305:G:C
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.30658306G>C, NC_000013.10:g.31232443G>C, NM_005800.5:c.2229G>C, NM_005800.4:c.2229G>C, XM_006719751.5:c.2211G>C, XM_006719751.4:c.2211G>C, XM_006719751.3:c.2211G>C, XM_006719751.2:c.2211G>C, XM_006719751.1:c.2211G>C, XM_017020314.3:c.2115G>C, XM_017020314.2:c.2115G>C, XM_017020314.1:c.2115G>C, NM_001321532.2:c.1686G>C, NM_001321532.1:c.1686G>C, XM_017020315.2:c.1572G>C, XM_017020315.1:c.1572G>C, NM_001321533.2:c.1242G>C, NM_001321533.1:c.1242G>C, NM_001321534.2:c.1242G>C, NM_001321534.1:c.1242G>C, XM_047430027.1:c.2229G>C, XM_047430029.1:c.2211G>C, XM_047430030.1:c.1686G>C, XM_047430028.1:c.2229G>C, XM_047430031.1:c.1686G>C, XM_047430032.1:c.*814G>C, NP_005791.3:p.Gln743His, XP_006719814.1:p.Gln737His, XP_016875803.1:p.Gln705His, NP_001308461.1:p.Gln562His, XP_016875804.1:p.Gln524His, NP_001308462.1:p.Gln414His, NP_001308463.1:p.Gln414His, XP_047285983.1:p.Gln743His, XP_047285985.1:p.Gln737His, XP_047285986.1:p.Gln562His, XP_047285984.1:p.Gln743His, XP_047285987.1:p.Gln562His

Select item 148430065211.

rs1484300652 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30657961 (GRCh38)
13:31232098 (GRCh37)
Canonical SPDI:: NC_000013.11:30657960:A:G
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30657961A>G, NC_000013.10:g.31232098A>G, NM_005800.5:c.1884A>G, NM_005800.4:c.1884A>G, XM_006719751.5:c.1866A>G, XM_006719751.4:c.1866A>G, XM_006719751.3:c.1866A>G, XM_006719751.2:c.1866A>G, XM_006719751.1:c.1866A>G, XM_017020314.3:c.1770A>G, XM_017020314.2:c.1770A>G, XM_017020314.1:c.1770A>G, NM_001321532.2:c.1341A>G, NM_001321532.1:c.1341A>G, XM_017020315.2:c.1227A>G, XM_017020315.1:c.1227A>G, NM_001321533.2:c.897A>G, NM_001321533.1:c.897A>G, NM_001321534.2:c.897A>G, NM_001321534.1:c.897A>G, XM_047430027.1:c.1884A>G, XM_047430029.1:c.1866A>G, XM_047430030.1:c.1341A>G, XM_047430028.1:c.1884A>G, XM_047430031.1:c.1341A>G, XM_047430032.1:c.*469A>G

Select item 148424108912.

rs1484241089 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 13:30631404 (GRCh38)
13:31205541 (GRCh37)
Canonical SPDI:: NC_000013.11:30631403:C:G,NC_000013.11:30631403:C:T
Gene:: USPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000013.11:g.30631404C>G, NC_000013.11:g.30631404C>T, NC_000013.10:g.31205541C>G, NC_000013.10:g.31205541C>T, NM_005800.5:c.798C>G, NM_005800.5:c.798C>T, NM_005800.4:c.798C>G, NM_005800.4:c.798C>T, XM_006719751.5:c.780C>G, XM_006719751.5:c.780C>T, XM_006719751.4:c.780C>G, XM_006719751.4:c.780C>T, XM_006719751.3:c.780C>G, XM_006719751.3:c.780C>T, XM_006719751.2:c.780C>G, XM_006719751.2:c.780C>T, XM_006719751.1:c.780C>G, XM_006719751.1:c.780C>T, XM_017020314.3:c.798C>G, XM_017020314.3:c.798C>T, XM_017020314.2:c.798C>G, XM_017020314.2:c.798C>T, XM_017020314.1:c.798C>G, XM_017020314.1:c.798C>T, NM_001321532.2:c.255C>G, NM_001321532.2:c.255C>T, NM_001321532.1:c.255C>G, NM_001321532.1:c.255C>T, XM_017020315.2:c.255C>G, XM_017020315.2:c.255C>T, XM_017020315.1:c.255C>G, XM_017020315.1:c.255C>T, XM_047430027.1:c.798C>G, XM_047430027.1:c.798C>T, XM_047430029.1:c.780C>G, XM_047430029.1:c.780C>T, XM_047430030.1:c.255C>G, XM_047430030.1:c.255C>T, XM_047430028.1:c.798C>G, XM_047430028.1:c.798C>T, XM_047430031.1:c.255C>G, XM_047430031.1:c.255C>T, XM_047430032.1:c.255C>G, XM_047430032.1:c.255C>T, NP_005791.3:p.Phe266Leu, XP_006719814.1:p.Phe260Leu, XP_016875803.1:p.Phe266Leu, NP_001308461.1:p.Phe85Leu, XP_016875804.1:p.Phe85Leu, XP_047285983.1:p.Phe266Leu, XP_047285985.1:p.Phe260Leu, XP_047285986.1:p.Phe85Leu, XP_047285984.1:p.Phe266Leu, XP_047285987.1:p.Phe85Leu, XP_047285988.1:p.Phe85Leu

Select item 148275719413.

rs1482757194 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30631294 (GRCh38)
13:31205431 (GRCh37)
Canonical SPDI:: NC_000013.11:30631293:A:G
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.000342/1 (KOREAN)
G=0.000672/11 (TOMMO)
G=0.001638/3 (Korea1K)
HGVS:: NC_000013.11:g.30631294A>G, NC_000013.10:g.31205431A>G, NM_005800.5:c.688A>G, NM_005800.4:c.688A>G, XM_006719751.5:c.670A>G, XM_006719751.4:c.670A>G, XM_006719751.3:c.670A>G, XM_006719751.2:c.670A>G, XM_006719751.1:c.670A>G, XM_017020314.3:c.688A>G, XM_017020314.2:c.688A>G, XM_017020314.1:c.688A>G, NM_001321532.2:c.145A>G, NM_001321532.1:c.145A>G, XM_017020315.2:c.145A>G, XM_017020315.1:c.145A>G, XM_047430027.1:c.688A>G, XM_047430029.1:c.670A>G, XM_047430030.1:c.145A>G, XM_047430028.1:c.688A>G, XM_047430031.1:c.145A>G, XM_047430032.1:c.145A>G, NP_005791.3:p.Lys230Glu, XP_006719814.1:p.Lys224Glu, XP_016875803.1:p.Lys230Glu, NP_001308461.1:p.Lys49Glu, XP_016875804.1:p.Lys49Glu, XP_047285983.1:p.Lys230Glu, XP_047285985.1:p.Lys224Glu, XP_047285986.1:p.Lys49Glu, XP_047285984.1:p.Lys230Glu, XP_047285987.1:p.Lys49Glu, XP_047285988.1:p.Lys49Glu

Select item 148271066114.

rs1482710661 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:30631188 (GRCh38)
13:31205325 (GRCh37)
Canonical SPDI:: NC_000013.11:30631187:T:C
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30631188T>C, NC_000013.10:g.31205325T>C, NM_005800.5:c.582T>C, NM_005800.4:c.582T>C, XM_006719751.5:c.564T>C, XM_006719751.4:c.564T>C, XM_006719751.3:c.564T>C, XM_006719751.2:c.564T>C, XM_006719751.1:c.564T>C, XM_017020314.3:c.582T>C, XM_017020314.2:c.582T>C, XM_017020314.1:c.582T>C, NM_001321532.2:c.39T>C, NM_001321532.1:c.39T>C, XM_017020315.2:c.39T>C, XM_017020315.1:c.39T>C, XM_047430027.1:c.582T>C, XM_047430029.1:c.564T>C, XM_047430030.1:c.39T>C, XM_047430028.1:c.582T>C, XM_047430031.1:c.39T>C, XM_047430032.1:c.39T>C

Select item 148207601115.

rs1482076011 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:30631461 (GRCh38)
13:31205598 (GRCh37)
Canonical SPDI:: NC_000013.11:30631460:G:A
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30631461G>A, NC_000013.10:g.31205598G>A, NM_005800.5:c.855G>A, NM_005800.4:c.855G>A, XM_006719751.5:c.837G>A, XM_006719751.4:c.837G>A, XM_006719751.3:c.837G>A, XM_006719751.2:c.837G>A, XM_006719751.1:c.837G>A, XM_017020314.3:c.855G>A, XM_017020314.2:c.855G>A, XM_017020314.1:c.855G>A, NM_001321532.2:c.312G>A, NM_001321532.1:c.312G>A, XM_017020315.2:c.312G>A, XM_017020315.1:c.312G>A, XM_047430027.1:c.855G>A, XM_047430029.1:c.837G>A, XM_047430030.1:c.312G>A, XM_047430028.1:c.855G>A, XM_047430031.1:c.312G>A, XM_047430032.1:c.312G>A

Select item 148011901616.

rs1480119016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:30631307 (GRCh38)
13:31205444 (GRCh37)
Canonical SPDI:: NC_000013.11:30631306:C:T
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000013.11:g.30631307C>T, NC_000013.10:g.31205444C>T, NM_005800.5:c.701C>T, NM_005800.4:c.701C>T, XM_006719751.5:c.683C>T, XM_006719751.4:c.683C>T, XM_006719751.3:c.683C>T, XM_006719751.2:c.683C>T, XM_006719751.1:c.683C>T, XM_017020314.3:c.701C>T, XM_017020314.2:c.701C>T, XM_017020314.1:c.701C>T, NM_001321532.2:c.158C>T, NM_001321532.1:c.158C>T, XM_017020315.2:c.158C>T, XM_017020315.1:c.158C>T, XM_047430027.1:c.701C>T, XM_047430029.1:c.683C>T, XM_047430030.1:c.158C>T, XM_047430028.1:c.701C>T, XM_047430031.1:c.158C>T, XM_047430032.1:c.158C>T, NP_005791.3:p.Ala234Val, XP_006719814.1:p.Ala228Val, XP_016875803.1:p.Ala234Val, NP_001308461.1:p.Ala53Val, XP_016875804.1:p.Ala53Val, XP_047285983.1:p.Ala234Val, XP_047285985.1:p.Ala228Val, XP_047285986.1:p.Ala53Val, XP_047285984.1:p.Ala234Val, XP_047285987.1:p.Ala53Val, XP_047285988.1:p.Ala53Val

Select item 147950556617.

rs1479505566 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:30658151 (GRCh38)
13:31232288 (GRCh37)
Canonical SPDI:: NC_000013.11:30658150:A:G
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30658151A>G, NC_000013.10:g.31232288A>G, NM_005800.5:c.2074A>G, NM_005800.4:c.2074A>G, XM_006719751.5:c.2056A>G, XM_006719751.4:c.2056A>G, XM_006719751.3:c.2056A>G, XM_006719751.2:c.2056A>G, XM_006719751.1:c.2056A>G, XM_017020314.3:c.1960A>G, XM_017020314.2:c.1960A>G, XM_017020314.1:c.1960A>G, NM_001321532.2:c.1531A>G, NM_001321532.1:c.1531A>G, XM_017020315.2:c.1417A>G, XM_017020315.1:c.1417A>G, NM_001321533.2:c.1087A>G, NM_001321533.1:c.1087A>G, NM_001321534.2:c.1087A>G, NM_001321534.1:c.1087A>G, XM_047430027.1:c.2074A>G, XM_047430029.1:c.2056A>G, XM_047430030.1:c.1531A>G, XM_047430028.1:c.2074A>G, XM_047430031.1:c.1531A>G, XM_047430032.1:c.*659A>G, NP_005791.3:p.Lys692Glu, XP_006719814.1:p.Lys686Glu, XP_016875803.1:p.Lys654Glu, NP_001308461.1:p.Lys511Glu, XP_016875804.1:p.Lys473Glu, NP_001308462.1:p.Lys363Glu, NP_001308463.1:p.Lys363Glu, XP_047285983.1:p.Lys692Glu, XP_047285985.1:p.Lys686Glu, XP_047285986.1:p.Lys511Glu, XP_047285984.1:p.Lys692Glu, XP_047285987.1:p.Lys511Glu

Select item 147794528118.

rs1477945281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:30659278 (GRCh38)
13:31233415 (GRCh37)
Canonical SPDI:: NC_000013.11:30659277:C:T
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.30659278C>T, NC_000013.10:g.31233415C>T, NM_005800.5:c.3201C>T, NM_005800.4:c.3201C>T, XM_006719751.5:c.3183C>T, XM_006719751.4:c.3183C>T, XM_006719751.3:c.3183C>T, XM_006719751.2:c.3183C>T, XM_006719751.1:c.3183C>T, XM_017020314.3:c.3087C>T, XM_017020314.2:c.3087C>T, XM_017020314.1:c.3087C>T, NM_001321532.2:c.2658C>T, NM_001321532.1:c.2658C>T, XM_017020315.2:c.2544C>T, XM_017020315.1:c.2544C>T, NM_001321533.2:c.2214C>T, NM_001321533.1:c.2214C>T, NM_001321534.2:c.2214C>T, NM_001321534.1:c.2214C>T, XM_047430027.1:c.3201C>T, XM_047430029.1:c.3183C>T, XM_047430030.1:c.2658C>T, XM_047430028.1:c.3201C>T, XM_047430031.1:c.2658C>T, XM_047430032.1:c.*1786C>T

Select item 147702713419.

rs1477027134 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 13:30659015 (GRCh38)
13:31233152 (GRCh37)
Canonical SPDI:: NC_000013.11:30659014:C:A,NC_000013.11:30659014:C:G,NC_000013.11:30659014:C:T
Gene:: USPL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000223/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30659015C>A, NC_000013.11:g.30659015C>G, NC_000013.11:g.30659015C>T, NC_000013.10:g.31233152C>A, NC_000013.10:g.31233152C>G, NC_000013.10:g.31233152C>T, NM_005800.5:c.2938C>A, NM_005800.5:c.2938C>G, NM_005800.5:c.2938C>T, NM_005800.4:c.2938C>A, NM_005800.4:c.2938C>G, NM_005800.4:c.2938C>T, XM_006719751.5:c.2920C>A, XM_006719751.5:c.2920C>G, XM_006719751.5:c.2920C>T, XM_006719751.4:c.2920C>A, XM_006719751.4:c.2920C>G, XM_006719751.4:c.2920C>T, XM_006719751.3:c.2920C>A, XM_006719751.3:c.2920C>G, XM_006719751.3:c.2920C>T, XM_006719751.2:c.2920C>A, XM_006719751.2:c.2920C>G, XM_006719751.2:c.2920C>T, XM_006719751.1:c.2920C>A, XM_006719751.1:c.2920C>G, XM_006719751.1:c.2920C>T, XM_017020314.3:c.2824C>A, XM_017020314.3:c.2824C>G, XM_017020314.3:c.2824C>T, XM_017020314.2:c.2824C>A, XM_017020314.2:c.2824C>G, XM_017020314.2:c.2824C>T, XM_017020314.1:c.2824C>A, XM_017020314.1:c.2824C>G, XM_017020314.1:c.2824C>T, NM_001321532.2:c.2395C>A, NM_001321532.2:c.2395C>G, NM_001321532.2:c.2395C>T, NM_001321532.1:c.2395C>A, NM_001321532.1:c.2395C>G, NM_001321532.1:c.2395C>T, XM_017020315.2:c.2281C>A, XM_017020315.2:c.2281C>G, XM_017020315.2:c.2281C>T, XM_017020315.1:c.2281C>A, XM_017020315.1:c.2281C>G, XM_017020315.1:c.2281C>T, NM_001321533.2:c.1951C>A, NM_001321533.2:c.1951C>G, NM_001321533.2:c.1951C>T, NM_001321533.1:c.1951C>A, NM_001321533.1:c.1951C>G, NM_001321533.1:c.1951C>T, NM_001321534.2:c.1951C>A, NM_001321534.2:c.1951C>G, NM_001321534.2:c.1951C>T, NM_001321534.1:c.1951C>A, NM_001321534.1:c.1951C>G, NM_001321534.1:c.1951C>T, XM_047430027.1:c.2938C>A, XM_047430027.1:c.2938C>G, XM_047430027.1:c.2938C>T, XM_047430029.1:c.2920C>A, XM_047430029.1:c.2920C>G, XM_047430029.1:c.2920C>T, XM_047430030.1:c.2395C>A, XM_047430030.1:c.2395C>G, XM_047430030.1:c.2395C>T, XM_047430028.1:c.2938C>A, XM_047430028.1:c.2938C>G, XM_047430028.1:c.2938C>T, XM_047430031.1:c.2395C>A, XM_047430031.1:c.2395C>G, XM_047430031.1:c.2395C>T, XM_047430032.1:c.*1523C>A, XM_047430032.1:c.*1523C>G, XM_047430032.1:c.*1523C>T, NP_005791.3:p.Pro980Thr, NP_005791.3:p.Pro980Ala, NP_005791.3:p.Pro980Ser, XP_006719814.1:p.Pro974Thr, XP_006719814.1:p.Pro974Ala, XP_006719814.1:p.Pro974Ser, XP_016875803.1:p.Pro942Thr, XP_016875803.1:p.Pro942Ala, XP_016875803.1:p.Pro942Ser, NP_001308461.1:p.Pro799Thr, NP_001308461.1:p.Pro799Ala, NP_001308461.1:p.Pro799Ser, XP_016875804.1:p.Pro761Thr, XP_016875804.1:p.Pro761Ala, XP_016875804.1:p.Pro761Ser, NP_001308462.1:p.Pro651Thr, NP_001308462.1:p.Pro651Ala, NP_001308462.1:p.Pro651Ser, NP_001308463.1:p.Pro651Thr, NP_001308463.1:p.Pro651Ala, NP_001308463.1:p.Pro651Ser, XP_047285983.1:p.Pro980Thr, XP_047285983.1:p.Pro980Ala, XP_047285983.1:p.Pro980Ser, XP_047285985.1:p.Pro974Thr, XP_047285985.1:p.Pro974Ala, XP_047285985.1:p.Pro974Ser, XP_047285986.1:p.Pro799Thr, XP_047285986.1:p.Pro799Ala, XP_047285986.1:p.Pro799Ser, XP_047285984.1:p.Pro980Thr, XP_047285984.1:p.Pro980Ala, XP_047285984.1:p.Pro980Ser, XP_047285987.1:p.Pro799Thr, XP_047285987.1:p.Pro799Ala, XP_047285987.1:p.Pro799Ser

Select item 147292944020.

rs1472929440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 13:30659002 (GRCh38)
13:31233139 (GRCh37)
Canonical SPDI:: NC_000013.11:30659001:A:C,NC_000013.11:30659001:A:G,NC_000013.11:30659001:A:T
Gene:: USPL1 (Varview)
Functional Consequence:: missense_variant,3_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.30659002A>C, NC_000013.11:g.30659002A>G, NC_000013.11:g.30659002A>T, NC_000013.10:g.31233139A>C, NC_000013.10:g.31233139A>G, NC_000013.10:g.31233139A>T, NM_005800.5:c.2925A>C, NM_005800.5:c.2925A>G, NM_005800.5:c.2925A>T, NM_005800.4:c.2925A>C, NM_005800.4:c.2925A>G, NM_005800.4:c.2925A>T, XM_006719751.5:c.2907A>C, XM_006719751.5:c.2907A>G, XM_006719751.5:c.2907A>T, XM_006719751.4:c.2907A>C, XM_006719751.4:c.2907A>G, XM_006719751.4:c.2907A>T, XM_006719751.3:c.2907A>C, XM_006719751.3:c.2907A>G, XM_006719751.3:c.2907A>T, XM_006719751.2:c.2907A>C, XM_006719751.2:c.2907A>G, XM_006719751.2:c.2907A>T, XM_006719751.1:c.2907A>C, XM_006719751.1:c.2907A>G, XM_006719751.1:c.2907A>T, XM_017020314.3:c.2811A>C, XM_017020314.3:c.2811A>G, XM_017020314.3:c.2811A>T, XM_017020314.2:c.2811A>C, XM_017020314.2:c.2811A>G, XM_017020314.2:c.2811A>T, XM_017020314.1:c.2811A>C, XM_017020314.1:c.2811A>G, XM_017020314.1:c.2811A>T, NM_001321532.2:c.2382A>C, NM_001321532.2:c.2382A>G, NM_001321532.2:c.2382A>T, NM_001321532.1:c.2382A>C, NM_001321532.1:c.2382A>G, NM_001321532.1:c.2382A>T, XM_017020315.2:c.2268A>C, XM_017020315.2:c.2268A>G, XM_017020315.2:c.2268A>T, XM_017020315.1:c.2268A>C, XM_017020315.1:c.2268A>G, XM_017020315.1:c.2268A>T, NM_001321533.2:c.1938A>C, NM_001321533.2:c.1938A>G, NM_001321533.2:c.1938A>T, NM_001321533.1:c.1938A>C, NM_001321533.1:c.1938A>G, NM_001321533.1:c.1938A>T, NM_001321534.2:c.1938A>C, NM_001321534.2:c.1938A>G, NM_001321534.2:c.1938A>T, NM_001321534.1:c.1938A>C, NM_001321534.1:c.1938A>G, NM_001321534.1:c.1938A>T, XM_047430027.1:c.2925A>C, XM_047430027.1:c.2925A>G, XM_047430027.1:c.2925A>T, XM_047430029.1:c.2907A>C, XM_047430029.1:c.2907A>G, XM_047430029.1:c.2907A>T, XM_047430030.1:c.2382A>C, XM_047430030.1:c.2382A>G, XM_047430030.1:c.2382A>T, XM_047430028.1:c.2925A>C, XM_047430028.1:c.2925A>G, XM_047430028.1:c.2925A>T, XM_047430031.1:c.2382A>C, XM_047430031.1:c.2382A>G, XM_047430031.1:c.2382A>T, XM_047430032.1:c.*1510A>C, XM_047430032.1:c.*1510A>G, XM_047430032.1:c.*1510A>T, NP_005791.3:p.Leu975Phe, NP_005791.3:p.Leu975Phe, XP_006719814.1:p.Leu969Phe, XP_006719814.1:p.Leu969Phe, XP_016875803.1:p.Leu937Phe, XP_016875803.1:p.Leu937Phe, NP_001308461.1:p.Leu794Phe, NP_001308461.1:p.Leu794Phe, XP_016875804.1:p.Leu756Phe, XP_016875804.1:p.Leu756Phe, NP_001308462.1:p.Leu646Phe, NP_001308462.1:p.Leu646Phe, NP_001308463.1:p.Leu646Phe, NP_001308463.1:p.Leu646Phe, XP_047285983.1:p.Leu975Phe, XP_047285983.1:p.Leu975Phe, XP_047285985.1:p.Leu969Phe, XP_047285985.1:p.Leu969Phe, XP_047285986.1:p.Leu794Phe, XP_047285986.1:p.Leu794Phe, XP_047285984.1:p.Leu975Phe, XP_047285984.1:p.Leu975Phe, XP_047285987.1:p.Leu794Phe, XP_047285987.1:p.Leu794Phe

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