SNP Links for Protein (Select 387912557) - SNP

Links from Protein

Items: 1 to 20 of 215

<< First< Prev

Page of 11

Next >Last >>

Select item 14874684851.

rs1487468485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:16505066 (GRCh38)
10:16547065 (GRCh37)
Canonical SPDI:: NC_000010.11:16505065:T:G
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000010.11:g.16505066T>G, NC_000010.10:g.16547065T>G, NM_030664.5:c.745T>G, NM_030664.4:c.745T>G, XM_017016927.3:c.808T>G, XM_017016927.2:c.808T>G, XM_017016927.1:c.808T>G, NM_001001484.3:c.745T>G, NM_001001484.2:c.745T>G, NM_001261836.2:c.745T>G, NM_001261836.1:c.745T>G, NM_001261838.2:c.298T>G, NM_001261838.1:c.298T>G, XR_007062017.1:n.1220T>G, XR_007062018.1:n.831T>G, XM_047426006.1:c.871T>G, NP_109589.2:p.Cys249Gly, XP_016872416.1:p.Cys270Gly, NP_001001484.1:p.Cys249Gly, NP_001248765.1:p.Cys249Gly, NP_001248767.1:p.Cys100Gly, XP_047281962.1:p.Cys291Gly

Select item 14874574202.

rs1487457420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 10:16505037 (GRCh38)
10:16547036 (GRCh37)
Canonical SPDI:: NC_000010.11:16505036:A:T
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.16505037A>T, NC_000010.10:g.16547036A>T, NM_030664.5:c.716A>T, NM_030664.4:c.716A>T, XM_017016927.3:c.779A>T, XM_017016927.2:c.779A>T, XM_017016927.1:c.779A>T, NM_001001484.3:c.716A>T, NM_001001484.2:c.716A>T, NM_001261836.2:c.716A>T, NM_001261836.1:c.716A>T, NM_001261838.2:c.269A>T, NM_001261838.1:c.269A>T, XR_007062017.1:n.1191A>T, XR_007062018.1:n.802A>T, XM_047426006.1:c.842A>T, NP_109589.2:p.Lys239Ile, XP_016872416.1:p.Lys260Ile, NP_001001484.1:p.Lys239Ile, NP_001248765.1:p.Lys239Ile, NP_001248767.1:p.Lys90Ile, XP_047281962.1:p.Lys281Ile

Select item 14647490293.

rs1464749029 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:16511069 (GRCh38)
10:16553068 (GRCh37)
Canonical SPDI:: NC_000010.11:16511068:G:C
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.16511069G>C, NC_000010.10:g.16553068G>C, NM_030664.5:c.863G>C, NM_030664.4:c.863G>C, XM_017016927.3:c.926G>C, XM_017016927.2:c.926G>C, XM_017016927.1:c.926G>C, NM_001001484.3:c.863G>C, NM_001001484.2:c.863G>C, XM_017016929.3:c.722G>C, XM_017016929.2:c.722G>C, XM_017016929.1:c.722G>C, NM_001261836.2:c.863G>C, NM_001261836.1:c.863G>C, NM_001261837.2:c.722G>C, NM_001261837.1:c.722G>C, NM_001261838.2:c.416G>C, NM_001261838.1:c.416G>C, XR_007062017.1:n.1338G>C, XR_007062018.1:n.949G>C, XM_047426006.1:c.989G>C, XM_047426007.1:c.848G>C, NP_109589.2:p.Gly288Ala, XP_016872416.1:p.Gly309Ala, NP_001001484.1:p.Gly288Ala, XP_016872418.1:p.Gly241Ala, NP_001248765.1:p.Gly288Ala, NP_001248766.1:p.Gly241Ala, NP_001248767.1:p.Gly139Ala, XP_047281962.1:p.Gly330Ala, XP_047281963.1:p.Gly283Ala

Select item 14643486494.

rs1464348649 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:16486590 (GRCh38)
10:16528589 (GRCh37)
Canonical SPDI:: NC_000010.11:16486589:C:G,NC_000010.11:16486589:C:T
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
T=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.16486590C>G, NC_000010.11:g.16486590C>T, NC_000010.10:g.16528589C>G, NC_000010.10:g.16528589C>T, NM_030664.5:c.671C>G, NM_030664.5:c.671C>T, NM_030664.4:c.671C>G, NM_030664.4:c.671C>T, XM_017016927.3:c.734C>G, XM_017016927.3:c.734C>T, XM_017016927.2:c.734C>G, XM_017016927.2:c.734C>T, XM_017016927.1:c.734C>G, XM_017016927.1:c.734C>T, NM_001001484.3:c.671C>G, NM_001001484.3:c.671C>T, NM_001001484.2:c.671C>G, NM_001001484.2:c.671C>T, XM_017016929.3:c.671C>G, XM_017016929.3:c.671C>T, XM_017016929.2:c.671C>G, XM_017016929.2:c.671C>T, XM_017016929.1:c.671C>G, XM_017016929.1:c.671C>T, NM_001261836.2:c.671C>G, NM_001261836.2:c.671C>T, NM_001261836.1:c.671C>G, NM_001261836.1:c.671C>T, NM_001261837.2:c.671C>G, NM_001261837.2:c.671C>T, NM_001261837.1:c.671C>G, NM_001261837.1:c.671C>T, NM_001261838.2:c.224C>G, NM_001261838.2:c.224C>T, NM_001261838.1:c.224C>G, NM_001261838.1:c.224C>T, XR_007062017.1:n.1146C>G, XR_007062017.1:n.1146C>T, XR_007062018.1:n.757C>G, XR_007062018.1:n.757C>T, XM_047426006.1:c.797C>G, XM_047426006.1:c.797C>T, XM_047426007.1:c.797C>G, XM_047426007.1:c.797C>T, NP_109589.2:p.Ser224Cys, NP_109589.2:p.Ser224Phe, XP_016872416.1:p.Ser245Cys, XP_016872416.1:p.Ser245Phe, NP_001001484.1:p.Ser224Cys, NP_001001484.1:p.Ser224Phe, XP_016872418.1:p.Ser224Cys, XP_016872418.1:p.Ser224Phe, NP_001248765.1:p.Ser224Cys, NP_001248765.1:p.Ser224Phe, NP_001248766.1:p.Ser224Cys, NP_001248766.1:p.Ser224Phe, NP_001248767.1:p.Ser75Cys, NP_001248767.1:p.Ser75Phe, XP_047281962.1:p.Ser266Cys, XP_047281962.1:p.Ser266Phe, XP_047281963.1:p.Ser266Cys, XP_047281963.1:p.Ser266Phe

Select item 14625073305.

rs1462507330 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:16486397 (GRCh38)
10:16528396 (GRCh37)
Canonical SPDI:: NC_000010.11:16486396:A:G
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.16486397A>G, NC_000010.10:g.16528396A>G, NM_030664.5:c.478A>G, NM_030664.4:c.478A>G, XM_017016927.3:c.541A>G, XM_017016927.2:c.541A>G, XM_017016927.1:c.541A>G, NM_001001484.3:c.478A>G, NM_001001484.2:c.478A>G, XM_017016929.3:c.478A>G, XM_017016929.2:c.478A>G, XM_017016929.1:c.478A>G, NM_001261836.2:c.478A>G, NM_001261836.1:c.478A>G, NM_001261837.2:c.478A>G, NM_001261837.1:c.478A>G, NM_001261838.2:c.31A>G, NM_001261838.1:c.31A>G, XR_007062017.1:n.953A>G, XR_007062018.1:n.564A>G, XM_047426006.1:c.604A>G, XM_047426007.1:c.604A>G, NP_109589.2:p.Thr160Ala, XP_016872416.1:p.Thr181Ala, NP_001001484.1:p.Thr160Ala, XP_016872418.1:p.Thr160Ala, NP_001248765.1:p.Thr160Ala, NP_001248766.1:p.Thr160Ala, NP_001248767.1:p.Thr11Ala, XP_047281962.1:p.Thr202Ala, XP_047281963.1:p.Thr202Ala

Select item 14586443996.

rs1458644399 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:16505110 (GRCh38)
10:16547109 (GRCh37)
Canonical SPDI:: NC_000010.11:16505109:C:G
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.16505110C>G, NC_000010.10:g.16547109C>G, NM_030664.5:c.789C>G, NM_030664.4:c.789C>G, XM_017016927.3:c.852C>G, XM_017016927.2:c.852C>G, XM_017016927.1:c.852C>G, NM_001001484.3:c.789C>G, NM_001001484.2:c.789C>G, NM_001261836.2:c.789C>G, NM_001261836.1:c.789C>G, NM_001261838.2:c.342C>G, NM_001261838.1:c.342C>G, XR_007062017.1:n.1264C>G, XR_007062018.1:n.875C>G, XM_047426006.1:c.915C>G, NP_109589.2:p.Tyr263Ter, XP_016872416.1:p.Tyr284Ter, NP_001001484.1:p.Tyr263Ter, NP_001248765.1:p.Tyr263Ter, NP_001248767.1:p.Tyr114Ter, XP_047281962.1:p.Tyr305Ter

Select item 14466457967.

rs1446645796 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:16486488 (GRCh38)
10:16528487 (GRCh37)
Canonical SPDI:: NC_000010.11:16486487:C:G,NC_000010.11:16486487:C:T
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16486488C>G, NC_000010.11:g.16486488C>T, NC_000010.10:g.16528487C>G, NC_000010.10:g.16528487C>T, NM_030664.5:c.569C>G, NM_030664.5:c.569C>T, NM_030664.4:c.569C>G, NM_030664.4:c.569C>T, XM_017016927.3:c.632C>G, XM_017016927.3:c.632C>T, XM_017016927.2:c.632C>G, XM_017016927.2:c.632C>T, XM_017016927.1:c.632C>G, XM_017016927.1:c.632C>T, NM_001001484.3:c.569C>G, NM_001001484.3:c.569C>T, NM_001001484.2:c.569C>G, NM_001001484.2:c.569C>T, XM_017016929.3:c.569C>G, XM_017016929.3:c.569C>T, XM_017016929.2:c.569C>G, XM_017016929.2:c.569C>T, XM_017016929.1:c.569C>G, XM_017016929.1:c.569C>T, NM_001261836.2:c.569C>G, NM_001261836.2:c.569C>T, NM_001261836.1:c.569C>G, NM_001261836.1:c.569C>T, NM_001261837.2:c.569C>G, NM_001261837.2:c.569C>T, NM_001261837.1:c.569C>G, NM_001261837.1:c.569C>T, NM_001261838.2:c.122C>G, NM_001261838.2:c.122C>T, NM_001261838.1:c.122C>G, NM_001261838.1:c.122C>T, XR_007062017.1:n.1044C>G, XR_007062017.1:n.1044C>T, XR_007062018.1:n.655C>G, XR_007062018.1:n.655C>T, XM_047426006.1:c.695C>G, XM_047426006.1:c.695C>T, XM_047426007.1:c.695C>G, XM_047426007.1:c.695C>T, NP_109589.2:p.Ala190Gly, NP_109589.2:p.Ala190Val, XP_016872416.1:p.Ala211Gly, XP_016872416.1:p.Ala211Val, NP_001001484.1:p.Ala190Gly, NP_001001484.1:p.Ala190Val, XP_016872418.1:p.Ala190Gly, XP_016872418.1:p.Ala190Val, NP_001248765.1:p.Ala190Gly, NP_001248765.1:p.Ala190Val, NP_001248766.1:p.Ala190Gly, NP_001248766.1:p.Ala190Val, NP_001248767.1:p.Ala41Gly, NP_001248767.1:p.Ala41Val, XP_047281962.1:p.Ala232Gly, XP_047281962.1:p.Ala232Val, XP_047281963.1:p.Ala232Gly, XP_047281963.1:p.Ala232Val

Select item 14453165428.

rs1445316542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:16511220 (GRCh38)
10:16553219 (GRCh37)
Canonical SPDI:: NC_000010.11:16511219:A:C
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.16511220A>C, NC_000010.10:g.16553219A>C, NM_030664.5:c.1014A>C, NM_030664.4:c.1014A>C, XM_017016927.3:c.1077A>C, XM_017016927.2:c.1077A>C, XM_017016927.1:c.1077A>C, NM_001001484.3:c.1014A>C, NM_001001484.2:c.1014A>C, XM_017016929.3:c.873A>C, XM_017016929.2:c.873A>C, XM_017016929.1:c.873A>C, NM_001261836.2:c.1014A>C, NM_001261836.1:c.1014A>C, NM_001261837.2:c.873A>C, NM_001261837.1:c.873A>C, NM_001261838.2:c.567A>C, NM_001261838.1:c.567A>C, XR_007062017.1:n.1489A>C, XR_007062018.1:n.1100A>C, XM_047426006.1:c.1140A>C, XM_047426007.1:c.999A>C

Select item 14452722399.

rs1445272239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:16486541 (GRCh38)
10:16528540 (GRCh37)
Canonical SPDI:: NC_000010.11:16486540:G:A,NC_000010.11:16486540:G:T
Gene:: PTER (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.16486541G>A, NC_000010.11:g.16486541G>T, NC_000010.10:g.16528540G>A, NC_000010.10:g.16528540G>T, NM_030664.5:c.622G>A, NM_030664.5:c.622G>T, NM_030664.4:c.622G>A, NM_030664.4:c.622G>T, XM_017016927.3:c.685G>A, XM_017016927.3:c.685G>T, XM_017016927.2:c.685G>A, XM_017016927.2:c.685G>T, XM_017016927.1:c.685G>A, XM_017016927.1:c.685G>T, NM_001001484.3:c.622G>A, NM_001001484.3:c.622G>T, NM_001001484.2:c.622G>A, NM_001001484.2:c.622G>T, XM_017016929.3:c.622G>A, XM_017016929.3:c.622G>T, XM_017016929.2:c.622G>A, XM_017016929.2:c.622G>T, XM_017016929.1:c.622G>A, XM_017016929.1:c.622G>T, NM_001261836.2:c.622G>A, NM_001261836.2:c.622G>T, NM_001261836.1:c.622G>A, NM_001261836.1:c.622G>T, NM_001261837.2:c.622G>A, NM_001261837.2:c.622G>T, NM_001261837.1:c.622G>A, NM_001261837.1:c.622G>T, NM_001261838.2:c.175G>A, NM_001261838.2:c.175G>T, NM_001261838.1:c.175G>A, NM_001261838.1:c.175G>T, XR_007062017.1:n.1097G>A, XR_007062017.1:n.1097G>T, XR_007062018.1:n.708G>A, XR_007062018.1:n.708G>T, XM_047426006.1:c.748G>A, XM_047426006.1:c.748G>T, XM_047426007.1:c.748G>A, XM_047426007.1:c.748G>T, NP_109589.2:p.Ala208Thr, NP_109589.2:p.Ala208Ser, XP_016872416.1:p.Ala229Thr, XP_016872416.1:p.Ala229Ser, NP_001001484.1:p.Ala208Thr, NP_001001484.1:p.Ala208Ser, XP_016872418.1:p.Ala208Thr, XP_016872418.1:p.Ala208Ser, NP_001248765.1:p.Ala208Thr, NP_001248765.1:p.Ala208Ser, NP_001248766.1:p.Ala208Thr, NP_001248766.1:p.Ala208Ser, NP_001248767.1:p.Ala59Thr, NP_001248767.1:p.Ala59Ser, XP_047281962.1:p.Ala250Thr, XP_047281962.1:p.Ala250Ser, XP_047281963.1:p.Ala250Thr, XP_047281963.1:p.Ala250Ser

Select item 144276623710.

rs1442766237 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 10:16486503 (GRCh38)
10:16528502 (GRCh37)
Canonical SPDI:: NC_000010.11:16486502:G:A,NC_000010.11:16486502:G:T
Gene:: PTER (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000043/6 (GnomAD)
HGVS:: NC_000010.11:g.16486503G>A, NC_000010.11:g.16486503G>T, NC_000010.10:g.16528502G>A, NC_000010.10:g.16528502G>T, NM_030664.5:c.584G>A, NM_030664.5:c.584G>T, NM_030664.4:c.584G>A, NM_030664.4:c.584G>T, XM_017016927.3:c.647G>A, XM_017016927.3:c.647G>T, XM_017016927.2:c.647G>A, XM_017016927.2:c.647G>T, XM_017016927.1:c.647G>A, XM_017016927.1:c.647G>T, NM_001001484.3:c.584G>A, NM_001001484.3:c.584G>T, NM_001001484.2:c.584G>A, NM_001001484.2:c.584G>T, XM_017016929.3:c.584G>A, XM_017016929.3:c.584G>T, XM_017016929.2:c.584G>A, XM_017016929.2:c.584G>T, XM_017016929.1:c.584G>A, XM_017016929.1:c.584G>T, NM_001261836.2:c.584G>A, NM_001261836.2:c.584G>T, NM_001261836.1:c.584G>A, NM_001261836.1:c.584G>T, NM_001261837.2:c.584G>A, NM_001261837.2:c.584G>T, NM_001261837.1:c.584G>A, NM_001261837.1:c.584G>T, NM_001261838.2:c.137G>A, NM_001261838.2:c.137G>T, NM_001261838.1:c.137G>A, NM_001261838.1:c.137G>T, XR_007062017.1:n.1059G>A, XR_007062017.1:n.1059G>T, XR_007062018.1:n.670G>A, XR_007062018.1:n.670G>T, XM_047426006.1:c.710G>A, XM_047426006.1:c.710G>T, XM_047426007.1:c.710G>A, XM_047426007.1:c.710G>T, NP_109589.2:p.Gly195Asp, NP_109589.2:p.Gly195Val, XP_016872416.1:p.Gly216Asp, XP_016872416.1:p.Gly216Val, NP_001001484.1:p.Gly195Asp, NP_001001484.1:p.Gly195Val, XP_016872418.1:p.Gly195Asp, XP_016872418.1:p.Gly195Val, NP_001248765.1:p.Gly195Asp, NP_001248765.1:p.Gly195Val, NP_001248766.1:p.Gly195Asp, NP_001248766.1:p.Gly195Val, NP_001248767.1:p.Gly46Asp, NP_001248767.1:p.Gly46Val, XP_047281962.1:p.Gly237Asp, XP_047281962.1:p.Gly237Val, XP_047281963.1:p.Gly237Asp, XP_047281963.1:p.Gly237Val

Select item 143267189811.

rs1432671898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:16511128 (GRCh38)
10:16553127 (GRCh37)
Canonical SPDI:: NC_000010.11:16511127:T:C,NC_000010.11:16511127:T:G
Gene:: PTER (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.16511128T>C, NC_000010.11:g.16511128T>G, NC_000010.10:g.16553127T>C, NC_000010.10:g.16553127T>G, NM_030664.5:c.922T>C, NM_030664.5:c.922T>G, NM_030664.4:c.922T>C, NM_030664.4:c.922T>G, XM_017016927.3:c.985T>C, XM_017016927.3:c.985T>G, XM_017016927.2:c.985T>C, XM_017016927.2:c.985T>G, XM_017016927.1:c.985T>C, XM_017016927.1:c.985T>G, NM_001001484.3:c.922T>C, NM_001001484.3:c.922T>G, NM_001001484.2:c.922T>C, NM_001001484.2:c.922T>G, XM_017016929.3:c.781T>C, XM_017016929.3:c.781T>G, XM_017016929.2:c.781T>C, XM_017016929.2:c.781T>G, XM_017016929.1:c.781T>C, XM_017016929.1:c.781T>G, NM_001261836.2:c.922T>C, NM_001261836.2:c.922T>G, NM_001261836.1:c.922T>C, NM_001261836.1:c.922T>G, NM_001261837.2:c.781T>C, NM_001261837.2:c.781T>G, NM_001261837.1:c.781T>C, NM_001261837.1:c.781T>G, NM_001261838.2:c.475T>C, NM_001261838.2:c.475T>G, NM_001261838.1:c.475T>C, NM_001261838.1:c.475T>G, XR_007062017.1:n.1397T>C, XR_007062017.1:n.1397T>G, XR_007062018.1:n.1008T>C, XR_007062018.1:n.1008T>G, XM_047426006.1:c.1048T>C, XM_047426006.1:c.1048T>G, XM_047426007.1:c.907T>C, XM_047426007.1:c.907T>G, NP_109589.2:p.Tyr308His, NP_109589.2:p.Tyr308Asp, XP_016872416.1:p.Tyr329His, XP_016872416.1:p.Tyr329Asp, NP_001001484.1:p.Tyr308His, NP_001001484.1:p.Tyr308Asp, XP_016872418.1:p.Tyr261His, XP_016872418.1:p.Tyr261Asp, NP_001248765.1:p.Tyr308His, NP_001248765.1:p.Tyr308Asp, NP_001248766.1:p.Tyr261His, NP_001248766.1:p.Tyr261Asp, NP_001248767.1:p.Tyr159His, NP_001248767.1:p.Tyr159Asp, XP_047281962.1:p.Tyr350His, XP_047281962.1:p.Tyr350Asp, XP_047281963.1:p.Tyr303His, XP_047281963.1:p.Tyr303Asp

Select item 143156736512.

rs1431567365 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:16511150 (GRCh38)
10:16553149 (GRCh37)
Canonical SPDI:: NC_000010.11:16511149:A:G
Gene:: PTER (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.16511150A>G, NC_000010.10:g.16553149A>G, NM_030664.5:c.944A>G, NM_030664.4:c.944A>G, XM_017016927.3:c.1007A>G, XM_017016927.2:c.1007A>G, XM_017016927.1:c.1007A>G, NM_001001484.3:c.944A>G, NM_001001484.2:c.944A>G, XM_017016929.3:c.803A>G, XM_017016929.2:c.803A>G, XM_017016929.1:c.803A>G, NM_001261836.2:c.944A>G, NM_001261836.1:c.944A>G, NM_001261837.2:c.803A>G, NM_001261837.1:c.803A>G, NM_001261838.2:c.497A>G, NM_001261838.1:c.497A>G, XR_007062017.1:n.1419A>G, XR_007062018.1:n.1030A>G, XM_047426006.1:c.1070A>G, XM_047426007.1:c.929A>G, NP_109589.2:p.His315Arg, XP_016872416.1:p.His336Arg, NP_001001484.1:p.His315Arg, XP_016872418.1:p.His268Arg, NP_001248765.1:p.His315Arg, NP_001248766.1:p.His268Arg, NP_001248767.1:p.His166Arg, XP_047281962.1:p.His357Arg, XP_047281963.1:p.His310Arg

Select item 142431833313.

rs1424318333 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:16511137 (GRCh38)
10:16553136 (GRCh37)
Canonical SPDI:: NC_000010.11:16511136:C:T
Gene:: PTER (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
HGVS:: NC_000010.11:g.16511137C>T, NC_000010.10:g.16553136C>T, NM_030664.5:c.931C>T, NM_030664.4:c.931C>T, XM_017016927.3:c.994C>T, XM_017016927.2:c.994C>T, XM_017016927.1:c.994C>T, NM_001001484.3:c.931C>T, NM_001001484.2:c.931C>T, XM_017016929.3:c.790C>T, XM_017016929.2:c.790C>T, XM_017016929.1:c.790C>T, NM_001261836.2:c.931C>T, NM_001261836.1:c.931C>T, NM_001261837.2:c.790C>T, NM_001261837.1:c.790C>T, NM_001261838.2:c.484C>T, NM_001261838.1:c.484C>T, XR_007062017.1:n.1406C>T, XR_007062018.1:n.1017C>T, XM_047426006.1:c.1057C>T, XM_047426007.1:c.916C>T, NP_109589.2:p.His311Tyr, XP_016872416.1:p.His332Tyr, NP_001001484.1:p.His311Tyr, XP_016872418.1:p.His264Tyr, NP_001248765.1:p.His311Tyr, NP_001248766.1:p.His264Tyr, NP_001248767.1:p.His162Tyr, XP_047281962.1:p.His353Tyr, XP_047281963.1:p.His306Tyr

Select item 141901539914.

rs1419015399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 10:16486447 (GRCh38)
10:16528446 (GRCh37)
Canonical SPDI:: NC_000010.11:16486446:G:C,NC_000010.11:16486446:G:T
Gene:: PTER (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
C=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.16486447G>C, NC_000010.11:g.16486447G>T, NC_000010.10:g.16528446G>C, NC_000010.10:g.16528446G>T, NM_030664.5:c.528G>C, NM_030664.5:c.528G>T, NM_030664.4:c.528G>C, NM_030664.4:c.528G>T, XM_017016927.3:c.591G>C, XM_017016927.3:c.591G>T, XM_017016927.2:c.591G>C, XM_017016927.2:c.591G>T, XM_017016927.1:c.591G>C, XM_017016927.1:c.591G>T, NM_001001484.3:c.528G>C, NM_001001484.3:c.528G>T, NM_001001484.2:c.528G>C, NM_001001484.2:c.528G>T, XM_017016929.3:c.528G>C, XM_017016929.3:c.528G>T, XM_017016929.2:c.528G>C, XM_017016929.2:c.528G>T, XM_017016929.1:c.528G>C, XM_017016929.1:c.528G>T, NM_001261836.2:c.528G>C, NM_001261836.2:c.528G>T, NM_001261836.1:c.528G>C, NM_001261836.1:c.528G>T, NM_001261837.2:c.528G>C, NM_001261837.2:c.528G>T, NM_001261837.1:c.528G>C, NM_001261837.1:c.528G>T, NM_001261838.2:c.81G>C, NM_001261838.2:c.81G>T, NM_001261838.1:c.81G>C, NM_001261838.1:c.81G>T, XR_007062017.1:n.1003G>C, XR_007062017.1:n.1003G>T, XR_007062018.1:n.614G>C, XR_007062018.1:n.614G>T, XM_047426006.1:c.654G>C, XM_047426006.1:c.654G>T, XM_047426007.1:c.654G>C, XM_047426007.1:c.654G>T, NP_109589.2:p.Leu176Phe, NP_109589.2:p.Leu176Phe, XP_016872416.1:p.Leu197Phe, XP_016872416.1:p.Leu197Phe, NP_001001484.1:p.Leu176Phe, NP_001001484.1:p.Leu176Phe, XP_016872418.1:p.Leu176Phe, XP_016872418.1:p.Leu176Phe, NP_001248765.1:p.Leu176Phe, NP_001248765.1:p.Leu176Phe, NP_001248766.1:p.Leu176Phe, NP_001248766.1:p.Leu176Phe, NP_001248767.1:p.Leu27Phe, NP_001248767.1:p.Leu27Phe, XP_047281962.1:p.Leu218Phe, XP_047281962.1:p.Leu218Phe, XP_047281963.1:p.Leu218Phe, XP_047281963.1:p.Leu218Phe

Select item 141862719615.

rs1418627196 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:16511180 (GRCh38)
10:16553179 (GRCh37)
Canonical SPDI:: NC_000010.11:16511179:T:G
Gene:: PTER (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_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_000010.11:g.16511180T>G, NC_000010.10:g.16553179T>G, NM_030664.5:c.974T>G, NM_030664.4:c.974T>G, XM_017016927.3:c.1037T>G, XM_017016927.2:c.1037T>G, XM_017016927.1:c.1037T>G, NM_001001484.3:c.974T>G, NM_001001484.2:c.974T>G, XM_017016929.3:c.833T>G, XM_017016929.2:c.833T>G, XM_017016929.1:c.833T>G, NM_001261836.2:c.974T>G, NM_001261836.1:c.974T>G, NM_001261837.2:c.833T>G, NM_001261837.1:c.833T>G, NM_001261838.2:c.527T>G, NM_001261838.1:c.527T>G, XR_007062017.1:n.1449T>G, XR_007062018.1:n.1060T>G, XM_047426006.1:c.1100T>G, XM_047426007.1:c.959T>G, NP_109589.2:p.Leu325Trp, XP_016872416.1:p.Leu346Trp, NP_001001484.1:p.Leu325Trp, XP_016872418.1:p.Leu278Trp, NP_001248765.1:p.Leu325Trp, NP_001248766.1:p.Leu278Trp, NP_001248767.1:p.Leu176Trp, XP_047281962.1:p.Leu367Trp, XP_047281963.1:p.Leu320Trp

Select item 141630899016.

rs1416308990 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:16511186 (GRCh38)
10:16553185 (GRCh37)
Canonical SPDI:: NC_000010.11:16511185:G:T
Gene:: PTER (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.16511186G>T, NC_000010.10:g.16553185G>T, NM_030664.5:c.980G>T, NM_030664.4:c.980G>T, XM_017016927.3:c.1043G>T, XM_017016927.2:c.1043G>T, XM_017016927.1:c.1043G>T, NM_001001484.3:c.980G>T, NM_001001484.2:c.980G>T, XM_017016929.3:c.839G>T, XM_017016929.2:c.839G>T, XM_017016929.1:c.839G>T, NM_001261836.2:c.980G>T, NM_001261836.1:c.980G>T, NM_001261837.2:c.839G>T, NM_001261837.1:c.839G>T, NM_001261838.2:c.533G>T, NM_001261838.1:c.533G>T, XR_007062017.1:n.1455G>T, XR_007062018.1:n.1066G>T, XM_047426006.1:c.1106G>T, XM_047426007.1:c.965G>T, NP_109589.2:p.Arg327Ile, XP_016872416.1:p.Arg348Ile, NP_001001484.1:p.Arg327Ile, XP_016872418.1:p.Arg280Ile, NP_001248765.1:p.Arg327Ile, NP_001248766.1:p.Arg280Ile, NP_001248767.1:p.Arg178Ile, XP_047281962.1:p.Arg369Ile, XP_047281963.1:p.Arg322Ile

Select item 141007796317.

rs1410077963 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:16505120 (GRCh38)
10:16547119 (GRCh37)
Canonical SPDI:: NC_000010.11:16505119:C:T
Gene:: PTER (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.16505120C>T, NC_000010.10:g.16547119C>T, NM_030664.5:c.799C>T, NM_030664.4:c.799C>T, XM_017016927.3:c.862C>T, XM_017016927.2:c.862C>T, XM_017016927.1:c.862C>T, NM_001001484.3:c.799C>T, NM_001001484.2:c.799C>T, NM_001261836.2:c.799C>T, NM_001261836.1:c.799C>T, NM_001261838.2:c.352C>T, NM_001261838.1:c.352C>T, XR_007062017.1:n.1274C>T, XR_007062018.1:n.885C>T, XM_047426006.1:c.925C>T, NP_109589.2:p.Pro267Ser, XP_016872416.1:p.Pro288Ser, NP_001001484.1:p.Pro267Ser, NP_001248765.1:p.Pro267Ser, NP_001248767.1:p.Pro118Ser, XP_047281962.1:p.Pro309Ser

Select item 140853528218.

rs1408535282 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGA>- [Show Flanks]
Chromosome:: 10:16486449 (GRCh38)
10:16528448 (GRCh37)
Canonical SPDI:: NC_000010.11:16486445:TGACTGA:TGA
Gene:: PTER (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGA=0.00033/5 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.001116/5 (Estonian)
HGVS:: NC_000010.11:g.16486449_16486452del, NC_000010.10:g.16528448_16528451del, NM_030664.5:c.530_533del, NM_030664.4:c.530_533del, XM_017016927.3:c.593_596del, XM_017016927.2:c.593_596del, XM_017016927.1:c.593_596del, NM_001001484.3:c.530_533del, NM_001001484.2:c.530_533del, XM_017016929.3:c.530_533del, XM_017016929.2:c.530_533del, XM_017016929.1:c.530_533del, NM_001261836.2:c.530_533del, NM_001261836.1:c.530_533del, NM_001261837.2:c.530_533del, NM_001261837.1:c.530_533del, NM_001261838.2:c.83_86del, NM_001261838.1:c.83_86del, XR_007062017.1:n.1005_1008del, XR_007062018.1:n.616_619del, XM_047426006.1:c.656_659del, XM_047426007.1:c.656_659del, NP_109589.2:p.Thr177fs, XP_016872416.1:p.Thr198fs, NP_001001484.1:p.Thr177fs, XP_016872418.1:p.Thr177fs, NP_001248765.1:p.Thr177fs, NP_001248766.1:p.Thr177fs, NP_001248767.1:p.Thr28fs, XP_047281962.1:p.Thr219fs, XP_047281963.1:p.Thr219fs

Select item 140755443319.

rs1407554433 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:16486601 (GRCh38)
10:16528600 (GRCh37)
Canonical SPDI:: NC_000010.11:16486600:A:G
Gene:: PTER (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.16486601A>G, NC_000010.10:g.16528600A>G, NM_030664.5:c.682A>G, NM_030664.4:c.682A>G, XM_017016927.3:c.745A>G, XM_017016927.2:c.745A>G, XM_017016927.1:c.745A>G, NM_001001484.3:c.682A>G, NM_001001484.2:c.682A>G, XM_017016929.3:c.682A>G, XM_017016929.2:c.682A>G, XM_017016929.1:c.682A>G, NM_001261836.2:c.682A>G, NM_001261836.1:c.682A>G, NM_001261837.2:c.682A>G, NM_001261837.1:c.682A>G, NM_001261838.2:c.235A>G, NM_001261838.1:c.235A>G, XR_007062017.1:n.1157A>G, XR_007062018.1:n.768A>G, XM_047426006.1:c.808A>G, XM_047426007.1:c.808A>G, NP_109589.2:p.Met228Val, XP_016872416.1:p.Met249Val, NP_001001484.1:p.Met228Val, XP_016872418.1:p.Met228Val, NP_001248765.1:p.Met228Val, NP_001248766.1:p.Met228Val, NP_001248767.1:p.Met79Val, XP_047281962.1:p.Met270Val, XP_047281963.1:p.Met270Val

Select item 140615650520.

rs1406156505 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:16511188 (GRCh38)
10:16553187 (GRCh37)
Canonical SPDI:: NC_000010.11:16511187:G:C
Gene:: PTER (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000051/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.16511188G>C, NC_000010.10:g.16553187G>C, NM_030664.5:c.982G>C, NM_030664.4:c.982G>C, XM_017016927.3:c.1045G>C, XM_017016927.2:c.1045G>C, XM_017016927.1:c.1045G>C, NM_001001484.3:c.982G>C, NM_001001484.2:c.982G>C, XM_017016929.3:c.841G>C, XM_017016929.2:c.841G>C, XM_017016929.1:c.841G>C, NM_001261836.2:c.982G>C, NM_001261836.1:c.982G>C, NM_001261837.2:c.841G>C, NM_001261837.1:c.841G>C, NM_001261838.2:c.535G>C, NM_001261838.1:c.535G>C, XR_007062017.1:n.1457G>C, XR_007062018.1:n.1068G>C, XM_047426006.1:c.1108G>C, XM_047426007.1:c.967G>C, NP_109589.2:p.Gly328Arg, XP_016872416.1:p.Gly349Arg, NP_001001484.1:p.Gly328Arg, XP_016872418.1:p.Gly281Arg, NP_001248765.1:p.Gly328Arg, NP_001248766.1:p.Gly281Arg, NP_001248767.1:p.Gly179Arg, XP_047281962.1:p.Gly370Arg, XP_047281963.1:p.Gly323Arg

<< First< Prev

Page of 11

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 215

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity