SNP Links for Protein (Select 767987272) - SNP - NCBI

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Links from Protein

Items: 1 to 20 of 397

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Select item 14905375331.

rs1490537533 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:14584754 (GRCh38)
16:14678611 (GRCh37)
Canonical SPDI:: NC_000016.10:14584753:A:G
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.00005/1 (ALFA)
HGVS:: NC_000016.10:g.14584754A>G, NC_000016.9:g.14678611A>G, NG_042871.1:g.50518T>C, NM_002582.4:c.1000T>C, NM_002582.3:c.1000T>C, NM_001134477.3:c.817T>C, NM_001134477.2:c.817T>C, NM_001242992.2:c.862T>C, NM_001242992.1:c.862T>C, NT_187607.1:g.157611A>G, XM_011522514.3:c.1000T>C, XM_011522514.2:c.1000T>C, XM_011522514.1:c.1000T>C, XR_007064881.1:n.1135T>C, XR_007064883.1:n.1057T>C, XR_007064884.1:n.1052T>C, XR_007064882.1:n.1135T>C, XM_047434181.1:c.1000T>C, XM_047434183.1:c.817T>C, XM_047434185.1:c.*23T>C, XM_047434184.1:c.817T>C, XM_047434182.1:c.1000T>C, NP_002573.1:p.Phe334Leu, NP_001127949.1:p.Phe273Leu, NP_001229921.1:p.Phe288Leu, XP_011520816.1:p.Phe334Leu, XP_047290137.1:p.Phe334Leu, XP_047290139.1:p.Phe273Leu, XP_047290140.1:p.Phe273Leu, XP_047290138.1:p.Phe334Leu

Select item 14882708752.

rs1488270875 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:14627146 (GRCh38)
16:14721003 (GRCh37)
Canonical SPDI:: NC_000016.10:14627145:G:A
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,intron_variant,missense_variant
HGVS:: NC_000016.10:g.14627146G>A, NC_000016.9:g.14721003G>A, NG_042871.1:g.8126C>T, NM_002582.4:c.287C>T, NM_002582.3:c.287C>T, NM_001134477.3:c.104C>T, NM_001134477.2:c.104C>T, NT_187607.1:g.200002G>A, XM_011522514.3:c.287C>T, XM_011522514.2:c.287C>T, XM_011522514.1:c.287C>T, XR_007064881.1:n.422C>T, XR_007064883.1:n.422C>T, XR_007064884.1:n.339C>T, XR_007064882.1:n.422C>T, XM_047434181.1:c.287C>T, XM_047434183.1:c.104C>T, XM_047434185.1:c.287C>T, XM_047434184.1:c.104C>T, XM_047434182.1:c.287C>T, NP_002573.1:p.Pro96Leu, NP_001127949.1:p.Pro35Leu, XP_011520816.1:p.Pro96Leu, XP_047290137.1:p.Pro96Leu, XP_047290139.1:p.Pro35Leu, XP_047290141.1:p.Pro96Leu, XP_047290140.1:p.Pro35Leu, XP_047290138.1:p.Pro96Leu

Select item 14866352973.

rs1486635297 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 16:14628210 (GRCh38)
16:14722067 (GRCh37)
Canonical SPDI:: NC_000016.10:14628209:A:T
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14628210A>T, NC_000016.9:g.14722067A>T, NG_042871.1:g.7062T>A, NM_002582.4:c.139T>A, NM_002582.3:c.139T>A, NM_001134477.3:c.-45T>A, NM_001134477.2:c.-45T>A, NM_001242992.2:c.139T>A, NM_001242992.1:c.139T>A, NT_187607.1:g.201066A>T, XM_011522514.3:c.139T>A, XM_011522514.2:c.139T>A, XM_011522514.1:c.139T>A, XR_007064881.1:n.274T>A, XR_007064883.1:n.274T>A, XR_007064884.1:n.191T>A, XR_007064882.1:n.274T>A, XM_047434181.1:c.139T>A, XM_047434183.1:c.-45T>A, XM_047434185.1:c.139T>A, XM_047434184.1:c.-45T>A, XM_047434182.1:c.139T>A, NP_002573.1:p.Phe47Ile, NP_001229921.1:p.Phe47Ile, XP_011520816.1:p.Phe47Ile, XP_047290137.1:p.Phe47Ile, XP_047290141.1:p.Phe47Ile, XP_047290138.1:p.Phe47Ile

Select item 14854059654.

rs1485405965 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:14628193 (GRCh38)
16:14722050 (GRCh37)
Canonical SPDI:: NC_000016.10:14628192:C:G
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14628193C>G, NC_000016.9:g.14722050C>G, NG_042871.1:g.7079G>C, NM_002582.4:c.156G>C, NM_002582.3:c.156G>C, NM_001134477.3:c.-28G>C, NM_001134477.2:c.-28G>C, NM_001242992.2:c.156G>C, NM_001242992.1:c.156G>C, NT_187607.1:g.201049C>G, XM_011522514.3:c.156G>C, XM_011522514.2:c.156G>C, XM_011522514.1:c.156G>C, XR_007064881.1:n.291G>C, XR_007064883.1:n.291G>C, XR_007064884.1:n.208G>C, XR_007064882.1:n.291G>C, XM_047434181.1:c.156G>C, XM_047434183.1:c.-28G>C, XM_047434185.1:c.156G>C, XM_047434184.1:c.-28G>C, XM_047434182.1:c.156G>C, NP_002573.1:p.Glu52Asp, NP_001229921.1:p.Glu52Asp, XP_011520816.1:p.Glu52Asp, XP_047290137.1:p.Glu52Asp, XP_047290141.1:p.Glu52Asp, XP_047290138.1:p.Glu52Asp

Select item 14831050905.

rs1483105090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:14599911 (GRCh38)
16:14693768 (GRCh37)
Canonical SPDI:: NC_000016.10:14599910:G:C
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.14599911G>C, NC_000016.9:g.14693768G>C, NG_042871.1:g.35361C>G, NM_002582.4:c.833C>G, NM_002582.3:c.833C>G, NM_001134477.3:c.650C>G, NM_001134477.2:c.650C>G, NM_001242992.2:c.695C>G, NM_001242992.1:c.695C>G, NT_187607.1:g.172768G>C, XM_011522514.3:c.833C>G, XM_011522514.2:c.833C>G, XM_011522514.1:c.833C>G, XR_007064881.1:n.968C>G, XR_007064883.1:n.968C>G, XR_007064884.1:n.885C>G, XR_007064882.1:n.968C>G, XM_047434181.1:c.833C>G, XM_047434183.1:c.650C>G, XM_047434185.1:c.833C>G, XM_047434184.1:c.650C>G, XM_047434182.1:c.833C>G, NP_002573.1:p.Ala278Gly, NP_001127949.1:p.Ala217Gly, NP_001229921.1:p.Ala232Gly, XP_011520816.1:p.Ala278Gly, XP_047290137.1:p.Ala278Gly, XP_047290139.1:p.Ala217Gly, XP_047290141.1:p.Ala278Gly, XP_047290140.1:p.Ala217Gly, XP_047290138.1:p.Ala278Gly

Select item 14823013116.

rs1482301311 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:14580926 (GRCh38)
16:14674783 (GRCh37)
Canonical SPDI:: NC_000016.10:14580925:G:A,NC_000016.10:14580925:G:C
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.14580926G>A, NC_000016.10:g.14580926G>C, NC_000016.9:g.14674783G>A, NC_000016.9:g.14674783G>C, NG_042871.1:g.54346C>T, NG_042871.1:g.54346C>G, NM_002582.4:c.1210C>T, NM_002582.4:c.1210C>G, NM_002582.3:c.1210C>T, NM_002582.3:c.1210C>G, NM_001134477.3:c.1027C>T, NM_001134477.3:c.1027C>G, NM_001134477.2:c.1027C>T, NM_001134477.2:c.1027C>G, NM_001242992.2:c.1072C>T, NM_001242992.2:c.1072C>G, NM_001242992.1:c.1072C>T, NM_001242992.1:c.1072C>G, NT_187607.1:g.153783G>A, NT_187607.1:g.153783G>C, XM_011522514.3:c.1210C>T, XM_011522514.3:c.1210C>G, XM_011522514.2:c.1210C>T, XM_011522514.2:c.1210C>G, XM_011522514.1:c.1210C>T, XM_011522514.1:c.1210C>G, XR_007064881.1:n.1345C>T, XR_007064881.1:n.1345C>G, XR_007064883.1:n.1267C>T, XR_007064883.1:n.1267C>G, XR_007064884.1:n.1262C>T, XR_007064884.1:n.1262C>G, XR_007064882.1:n.1345C>T, XR_007064882.1:n.1345C>G, XM_047434182.1:c.1210C>T, XM_047434182.1:c.1210C>G, XM_047434181.1:c.1210C>T, XM_047434181.1:c.1210C>G, XM_047434183.1:c.1027C>T, XM_047434183.1:c.1027C>G, XM_047434184.1:c.1027C>T, XM_047434184.1:c.1027C>G, NP_002573.1:p.Pro404Ser, NP_002573.1:p.Pro404Ala, NP_001127949.1:p.Pro343Ser, NP_001127949.1:p.Pro343Ala, NP_001229921.1:p.Pro358Ser, NP_001229921.1:p.Pro358Ala, XP_011520816.1:p.Pro404Ser, XP_011520816.1:p.Pro404Ala, XP_047290138.1:p.Pro404Ser, XP_047290138.1:p.Pro404Ala, XP_047290137.1:p.Pro404Ser, XP_047290137.1:p.Pro404Ala, XP_047290139.1:p.Pro343Ser, XP_047290139.1:p.Pro343Ala, XP_047290140.1:p.Pro343Ser, XP_047290140.1:p.Pro343Ala

Select item 14811313487.

rs1481131348 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:14582212 (GRCh38)
16:14676069 (GRCh37)
Canonical SPDI:: NC_000016.10:14582211:C:A,NC_000016.10:14582211:C:T
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,genic_downstream_transcript_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14582212C>A, NC_000016.10:g.14582212C>T, NC_000016.9:g.14676069C>A, NC_000016.9:g.14676069C>T, NG_042871.1:g.53060G>T, NG_042871.1:g.53060G>A, NM_002582.4:c.1161G>T, NM_002582.4:c.1161G>A, NM_002582.3:c.1161G>T, NM_002582.3:c.1161G>A, NM_001134477.3:c.978G>T, NM_001134477.3:c.978G>A, NM_001134477.2:c.978G>T, NM_001134477.2:c.978G>A, NM_001242992.2:c.1023G>T, NM_001242992.2:c.1023G>A, NM_001242992.1:c.1023G>T, NM_001242992.1:c.1023G>A, NT_187607.1:g.155069C>A, NT_187607.1:g.155069C>T, XM_011522514.3:c.1161G>T, XM_011522514.3:c.1161G>A, XM_011522514.2:c.1161G>T, XM_011522514.2:c.1161G>A, XM_011522514.1:c.1161G>T, XM_011522514.1:c.1161G>A, XR_007064881.1:n.1296G>T, XR_007064881.1:n.1296G>A, XR_007064883.1:n.1218G>T, XR_007064883.1:n.1218G>A, XR_007064884.1:n.1213G>T, XR_007064884.1:n.1213G>A, XM_047434182.1:c.1161G>T, XM_047434182.1:c.1161G>A, XR_007064882.1:n.1296G>T, XR_007064882.1:n.1296G>A, XM_047434183.1:c.978G>T, XM_047434183.1:c.978G>A, XM_047434184.1:c.978G>T, XM_047434184.1:c.978G>A, XM_047434181.1:c.1161G>T, XM_047434181.1:c.1161G>A

Select item 14807536378.

rs1480753637 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:14628221 (GRCh38)
16:14722078 (GRCh37)
Canonical SPDI:: NC_000016.10:14628220:AA:
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.14628221_14628222del, NC_000016.9:g.14722078_14722079del, NG_042871.1:g.7050_7051del, NM_002582.4:c.127_128del, NM_002582.3:c.127_128del, NM_001134477.3:c.-57_-56del, NM_001134477.2:c.-57_-56del, NM_001242992.2:c.127_128del, NM_001242992.1:c.127_128del, NT_187607.1:g.201077_201078del, XM_011522514.3:c.127_128del, XM_011522514.2:c.127_128del, XM_011522514.1:c.127_128del, XR_007064881.1:n.262_263del, XR_007064883.1:n.262_263del, XR_007064884.1:n.179_180del, XR_007064882.1:n.262_263del, XM_047434181.1:c.127_128del, XM_047434183.1:c.-57_-56del, XM_047434185.1:c.127_128del, XM_047434184.1:c.-57_-56del, XM_047434182.1:c.127_128del, NP_002573.1:p.Leu43fs, NP_001229921.1:p.Leu43fs, XP_011520816.1:p.Leu43fs, XP_047290137.1:p.Leu43fs, XP_047290141.1:p.Leu43fs, XP_047290138.1:p.Leu43fs

Select item 14780090899.

rs1478009089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:14608316 (GRCh38)
16:14702173 (GRCh37)
Canonical SPDI:: NC_000016.10:14608315:G:C
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.14608316G>C, NC_000016.9:g.14702173G>C, NG_042871.1:g.26956C>G, NM_002582.4:c.624C>G, NM_002582.3:c.624C>G, NM_001134477.3:c.441C>G, NM_001134477.2:c.441C>G, NM_001242992.2:c.486C>G, NM_001242992.1:c.486C>G, NT_187607.1:g.181173G>C, XM_011522514.3:c.624C>G, XM_011522514.2:c.624C>G, XM_011522514.1:c.624C>G, XR_007064881.1:n.759C>G, XR_007064883.1:n.759C>G, XR_007064884.1:n.676C>G, XR_007064882.1:n.759C>G, XM_047434181.1:c.624C>G, XM_047434183.1:c.441C>G, XM_047434185.1:c.624C>G, XM_047434184.1:c.441C>G, XM_047434182.1:c.624C>G, NP_002573.1:p.Phe208Leu, NP_001127949.1:p.Phe147Leu, NP_001229921.1:p.Phe162Leu, XP_011520816.1:p.Phe208Leu, XP_047290137.1:p.Phe208Leu, XP_047290139.1:p.Phe147Leu, XP_047290141.1:p.Phe208Leu, XP_047290140.1:p.Phe147Leu, XP_047290138.1:p.Phe208Leu

Select item 147687398010.

rs1476873980 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:14610698 (GRCh38)
16:14704555 (GRCh37)
Canonical SPDI:: NC_000016.10:14610697:G:C
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14610698G>C, NC_000016.9:g.14704555G>C, NG_042871.1:g.24574C>G, NM_002582.4:c.500C>G, NM_002582.3:c.500C>G, NM_001134477.3:c.317C>G, NM_001134477.2:c.317C>G, NM_001242992.2:c.362C>G, NM_001242992.1:c.362C>G, NT_187607.1:g.183555G>C, XM_011522514.3:c.500C>G, XM_011522514.2:c.500C>G, XM_011522514.1:c.500C>G, XR_007064881.1:n.635C>G, XR_007064883.1:n.635C>G, XR_007064884.1:n.552C>G, XR_007064882.1:n.635C>G, XM_047434181.1:c.500C>G, XM_047434183.1:c.317C>G, XM_047434185.1:c.500C>G, XM_047434184.1:c.317C>G, XM_047434182.1:c.500C>G, NP_002573.1:p.Ser167Ter, NP_001127949.1:p.Ser106Ter, NP_001229921.1:p.Ser121Ter, XP_011520816.1:p.Ser167Ter, XP_047290137.1:p.Ser167Ter, XP_047290139.1:p.Ser106Ter, XP_047290141.1:p.Ser167Ter, XP_047290140.1:p.Ser106Ter, XP_047290138.1:p.Ser167Ter

Select item 147649419811.

rs1476494198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:14584408 (GRCh38)
16:14678265 (GRCh37)
Canonical SPDI:: NC_000016.10:14584407:G:A
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,synonymous_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.14584408G>A, NC_000016.9:g.14678265G>A, NG_042871.1:g.50864C>T, NM_002582.4:c.1020C>T, NM_002582.3:c.1020C>T, NM_001134477.3:c.837C>T, NM_001134477.2:c.837C>T, NM_001242992.2:c.882C>T, NM_001242992.1:c.882C>T, NT_187607.1:g.157265G>A, XM_011522514.3:c.1020C>T, XM_011522514.2:c.1020C>T, XM_011522514.1:c.1020C>T, XR_007064881.1:n.1155C>T, XR_007064883.1:n.1077C>T, XR_007064884.1:n.1072C>T, XR_007064882.1:n.1155C>T, XM_047434181.1:c.1020C>T, XM_047434183.1:c.837C>T, XM_047434185.1:c.*43C>T, XM_047434184.1:c.837C>T, XM_047434182.1:c.1020C>T

Select item 147528860812.

rs1475288608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:14604221 (GRCh38)
16:14698078 (GRCh37)
Canonical SPDI:: NC_000016.10:14604220:C:A,NC_000016.10:14604220:C:T
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,synonymous_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000016.10:g.14604221C>A, NC_000016.10:g.14604221C>T, NC_000016.9:g.14698078C>A, NC_000016.9:g.14698078C>T, NG_042871.1:g.31051G>T, NG_042871.1:g.31051G>A, NM_002582.4:c.708G>T, NM_002582.4:c.708G>A, NM_002582.3:c.708G>T, NM_002582.3:c.708G>A, NM_001134477.3:c.525G>T, NM_001134477.3:c.525G>A, NM_001134477.2:c.525G>T, NM_001134477.2:c.525G>A, NM_001242992.2:c.570G>T, NM_001242992.2:c.570G>A, NM_001242992.1:c.570G>T, NM_001242992.1:c.570G>A, NT_187607.1:g.177078C>A, NT_187607.1:g.177078C>T, XM_011522514.3:c.708G>T, XM_011522514.3:c.708G>A, XM_011522514.2:c.708G>T, XM_011522514.2:c.708G>A, XM_011522514.1:c.708G>T, XM_011522514.1:c.708G>A, XR_007064881.1:n.843G>T, XR_007064881.1:n.843G>A, XR_007064883.1:n.843G>T, XR_007064883.1:n.843G>A, XR_007064884.1:n.760G>T, XR_007064884.1:n.760G>A, XR_007064882.1:n.843G>T, XR_007064882.1:n.843G>A, XM_047434181.1:c.708G>T, XM_047434181.1:c.708G>A, XM_047434183.1:c.525G>T, XM_047434183.1:c.525G>A, XM_047434185.1:c.708G>T, XM_047434185.1:c.708G>A, XM_047434184.1:c.525G>T, XM_047434184.1:c.525G>A, XM_047434182.1:c.708G>T, XM_047434182.1:c.708G>A, NP_002573.1:p.Glu236Asp, NP_001127949.1:p.Glu175Asp, NP_001229921.1:p.Glu190Asp, XP_011520816.1:p.Glu236Asp, XP_047290137.1:p.Glu236Asp, XP_047290139.1:p.Glu175Asp, XP_047290141.1:p.Glu236Asp, XP_047290140.1:p.Glu175Asp, XP_047290138.1:p.Glu236Asp

Select item 147421768813.

rs1474217688 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:14576258 (GRCh38)
16:14670115 (GRCh37)
Canonical SPDI:: NC_000016.10:14576257:C:G,NC_000016.10:14576257:C:T
Gene:: PARN (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,stop_lost,synonymous_variant,terminator_codon_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.14576258C>G, NC_000016.10:g.14576258C>T, NC_000016.9:g.14670115C>G, NC_000016.9:g.14670115C>T, NG_042871.1:g.59014G>C, NG_042871.1:g.59014G>A, NT_187607.1:g.149115C>G, NT_187607.1:g.149115C>T, XM_011522514.3:c.1281G>C, XM_011522514.3:c.1281G>A, XM_011522514.2:c.1281G>C, XM_011522514.2:c.1281G>A, XM_011522514.1:c.1281G>C, XM_011522514.1:c.1281G>A, XP_011520816.1:p.Ter427Tyr

Select item 147056551914.

rs1470565519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:14627315 (GRCh38)
16:14721172 (GRCh37)
Canonical SPDI:: NC_000016.10:14627314:A:G
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,non_coding_transcript_variant
HGVS:: NC_000016.10:g.14627315A>G, NC_000016.9:g.14721172A>G, NG_042871.1:g.7957T>C, NM_002582.4:c.199T>C, NM_002582.3:c.199T>C, NM_001134477.3:c.16T>C, NM_001134477.2:c.16T>C, NT_187607.1:g.200171A>G, XM_011522514.3:c.199T>C, XM_011522514.2:c.199T>C, XM_011522514.1:c.199T>C, XR_007064881.1:n.334T>C, XR_007064883.1:n.334T>C, XR_007064884.1:n.251T>C, XR_007064882.1:n.334T>C, XM_047434181.1:c.199T>C, XM_047434183.1:c.16T>C, XM_047434185.1:c.199T>C, XM_047434184.1:c.16T>C, XM_047434182.1:c.199T>C, NP_002573.1:p.Phe67Leu, NP_001127949.1:p.Phe6Leu, XP_011520816.1:p.Phe67Leu, XP_047290137.1:p.Phe67Leu, XP_047290139.1:p.Phe6Leu, XP_047290141.1:p.Phe67Leu, XP_047290140.1:p.Phe6Leu, XP_047290138.1:p.Phe67Leu

Select item 147005974115.

rs1470059741 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 16:14627293 (GRCh38)
16:14721151 (GRCh37)
Canonical SPDI:: NC_000016.10:14627293:A:ATA
Gene:: PARN (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,frameshift_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: AT=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14627294_14627295insTA, NC_000016.9:g.14721151_14721152insTA, NG_042871.1:g.7978_7979insAT, NM_002582.4:c.220_221insAT, NM_002582.3:c.220_221insAT, NM_001134477.3:c.37_38insAT, NM_001134477.2:c.37_38insAT, NT_187607.1:g.200150_200151insTA, XM_011522514.3:c.220_221insAT, XM_011522514.2:c.220_221insAT, XM_011522514.1:c.220_221insAT, XR_007064881.1:n.355_356insAT, XR_007064883.1:n.355_356insAT, XR_007064884.1:n.272_273insAT, XR_007064882.1:n.355_356insAT, XM_047434181.1:c.220_221insAT, XM_047434183.1:c.37_38insAT, XM_047434185.1:c.220_221insAT, XM_047434184.1:c.37_38insAT, XM_047434182.1:c.220_221insAT, NP_002573.1:p.Phe74fs, NP_001127949.1:p.Phe13fs, XP_011520816.1:p.Phe74fs, XP_047290137.1:p.Phe74fs, XP_047290139.1:p.Phe13fs, XP_047290141.1:p.Phe74fs, XP_047290140.1:p.Phe13fs, XP_047290138.1:p.Phe74fs

Select item 146749599316.

rs1467495993 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:14627276 (GRCh38)
16:14721133 (GRCh37)
Canonical SPDI:: NC_000016.10:14627275:C:T
Gene:: PARN (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)
HGVS:: NC_000016.10:g.14627276C>T, NC_000016.9:g.14721133C>T, NG_042871.1:g.7996G>A, NM_002582.4:c.238G>A, NM_002582.3:c.238G>A, NM_001134477.3:c.55G>A, NM_001134477.2:c.55G>A, NT_187607.1:g.200132C>T, XM_011522514.3:c.238G>A, XM_011522514.2:c.238G>A, XM_011522514.1:c.238G>A, XR_007064881.1:n.373G>A, XR_007064883.1:n.373G>A, XR_007064884.1:n.290G>A, XR_007064882.1:n.373G>A, XM_047434181.1:c.238G>A, XM_047434183.1:c.55G>A, XM_047434185.1:c.238G>A, XM_047434184.1:c.55G>A, XM_047434182.1:c.238G>A, NP_002573.1:p.Asp80Asn, NP_001127949.1:p.Asp19Asn, XP_011520816.1:p.Asp80Asn, XP_047290137.1:p.Asp80Asn, XP_047290139.1:p.Asp19Asn, XP_047290141.1:p.Asp80Asn, XP_047290140.1:p.Asp19Asn, XP_047290138.1:p.Asp80Asn

Select item 146538996417.

rs1465389964 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 16:14604197 (GRCh38)
16:14698054 (GRCh37)
Canonical SPDI:: NC_000016.10:14604196:T:A,NC_000016.10:14604196:T:C
Gene:: PARN (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
C=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14604197T>A, NC_000016.10:g.14604197T>C, NC_000016.9:g.14698054T>A, NC_000016.9:g.14698054T>C, NG_042871.1:g.31075A>T, NG_042871.1:g.31075A>G, NM_002582.4:c.732A>T, NM_002582.4:c.732A>G, NM_002582.3:c.732A>T, NM_002582.3:c.732A>G, NM_001134477.3:c.549A>T, NM_001134477.3:c.549A>G, NM_001134477.2:c.549A>T, NM_001134477.2:c.549A>G, NM_001242992.2:c.594A>T, NM_001242992.2:c.594A>G, NM_001242992.1:c.594A>T, NM_001242992.1:c.594A>G, NT_187607.1:g.177054T>A, NT_187607.1:g.177054T>C, XM_011522514.3:c.732A>T, XM_011522514.3:c.732A>G, XM_011522514.2:c.732A>T, XM_011522514.2:c.732A>G, XM_011522514.1:c.732A>T, XM_011522514.1:c.732A>G, XR_007064881.1:n.867A>T, XR_007064881.1:n.867A>G, XR_007064883.1:n.867A>T, XR_007064883.1:n.867A>G, XR_007064884.1:n.784A>T, XR_007064884.1:n.784A>G, XR_007064882.1:n.867A>T, XR_007064882.1:n.867A>G, XM_047434181.1:c.732A>T, XM_047434181.1:c.732A>G, XM_047434183.1:c.549A>T, XM_047434183.1:c.549A>G, XM_047434185.1:c.732A>T, XM_047434185.1:c.732A>G, XM_047434184.1:c.549A>T, XM_047434184.1:c.549A>G, XM_047434182.1:c.732A>T, XM_047434182.1:c.732A>G

Select item 146103624318.

rs1461036243 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:14586331 (GRCh38)
16:14680188 (GRCh37)
Canonical SPDI:: NC_000016.10:14586330:AT:
Gene:: PARN (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.14586331_14586332del, NC_000016.9:g.14680188_14680189del, NG_042871.1:g.48940_48941del, NM_002582.4:c.948_949del, NM_002582.3:c.948_949del, NM_001134477.3:c.765_766del, NM_001134477.2:c.765_766del, NM_001242992.2:c.810_811del, NM_001242992.1:c.810_811del, NT_187607.1:g.159188_159189del, XM_011522514.3:c.948_949del, XM_011522514.2:c.948_949del, XM_011522514.1:c.948_949del, XR_007064881.1:n.1083_1084del, XR_007064883.1:n.1005_1006del, XR_007064884.1:n.1000_1001del, XR_007064882.1:n.1083_1084del, XM_047434181.1:c.948_949del, XM_047434183.1:c.765_766del, XM_047434184.1:c.765_766del, XM_047434182.1:c.948_949del, NP_002573.1:p.Val318fs, NP_001127949.1:p.Val257fs, NP_001229921.1:p.Val272fs, XP_011520816.1:p.Val318fs, XP_047290137.1:p.Val318fs, XP_047290139.1:p.Val257fs, XP_047290140.1:p.Val257fs, XP_047290138.1:p.Val318fs

Select item 145892266719.

rs1458922667 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTCGGATACCT>- [Show Flanks]
Chromosome:: 16:14606518 (GRCh38)
16:14700375 (GRCh37)
Canonical SPDI:: NC_000016.10:14606514:CCTTTCGGATACCT:CCT
Gene:: PARN (Varview)
Functional Consequence:: non_coding_transcript_variant,splice_acceptor_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCT=0./0 (ALFA)
-=0.000005/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.14606518_14606528del, NC_000016.9:g.14700375_14700385del, NG_042871.1:g.28747_28757del, NT_187607.1:g.179375_179385del

Select item 145626547020.

rs1456265470 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:14617627 (GRCh38)
16:14711484 (GRCh37)
Canonical SPDI:: NC_000016.10:14617626:T:C,NC_000016.10:14617626:T:G
Gene:: PARN (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.14617627T>C, NC_000016.10:g.14617627T>G, NC_000016.9:g.14711484T>C, NC_000016.9:g.14711484T>G, NG_042871.1:g.17645A>G, NG_042871.1:g.17645A>C, NM_002582.4:c.351A>G, NM_002582.4:c.351A>C, NM_002582.3:c.351A>G, NM_002582.3:c.351A>C, NM_001134477.3:c.168A>G, NM_001134477.3:c.168A>C, NM_001134477.2:c.168A>G, NM_001134477.2:c.168A>C, NM_001242992.2:c.213A>G, NM_001242992.2:c.213A>C, NM_001242992.1:c.213A>G, NM_001242992.1:c.213A>C, NT_187607.1:g.190483T>C, NT_187607.1:g.190483T>G, XM_011522514.3:c.351A>G, XM_011522514.3:c.351A>C, XM_011522514.2:c.351A>G, XM_011522514.2:c.351A>C, XM_011522514.1:c.351A>G, XM_011522514.1:c.351A>C, XR_007064881.1:n.486A>G, XR_007064881.1:n.486A>C, XR_007064883.1:n.486A>G, XR_007064883.1:n.486A>C, XR_007064884.1:n.403A>G, XR_007064884.1:n.403A>C, XR_007064882.1:n.486A>G, XR_007064882.1:n.486A>C, XM_047434181.1:c.351A>G, XM_047434181.1:c.351A>C, XM_047434183.1:c.168A>G, XM_047434183.1:c.168A>C, XM_047434185.1:c.351A>G, XM_047434185.1:c.351A>C, XM_047434184.1:c.168A>G, XM_047434184.1:c.168A>C, XM_047434182.1:c.351A>G, XM_047434182.1:c.351A>C

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