Canonical Allele Identifier: CA004265
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 199881
ClinVar RCV Id: RCV000181316 RCV000709723 RCV001028062 RCV003150054 RCV003165384 RCV001388420
dbSNP Id: rs767643821
ExAC: 6:7580228 C / T
gnomAD v2: 6-7580228-C-T
gnomAD v3: 6-7579995-C-T
gnomAD v4: 6-7579995-C-T
COSMIC: COSM1580818
MyVariant Identifiers: chr6:g.7580228C>T (hg19) chr6:g.7580228_7580229delinsTG (hg19) chr6:g.7579995C>T (hg38) chr6:g.7579995_7579996delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7579995C>T , CM000668.2:g.7579995C>T GRCh38
NC_000006.11:g.7580228C>T , CM000668.1:g.7580228C>T GRCh37
NC_000006.10:g.7525227C>T NCBI36
NG_008803.1:g.43359C>T , LRG_423:g.43359C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.3805C>T ENSP00000518230.1:p.Arg1269Ter
ENST00000379802.8:c.3805C>T MANE Select ENSP00000369129.3:p.Arg1269Ter
ENST00000379802.7:c.3805C>T ENSP00000369129.3:p.Arg1269Ter
ENST00000418664.2:c.3582+223C>T ENSP00000396591.2:n.3582+223C>T
NM_001008844.1:c.3582+223C>T NP_001008844.1:n.3582+223C>T
NM_004415.2:c.3805C>T , LRG_423t1:c.3805C>T NP_004406.2:p.Arg1269Ter
XM_011514323.1:c.3805C>T XP_011512625.1:p.Arg1269Ter
NM_001008844.2:c.3582+223C>T NP_001008844.1:n.3582+223C>T
NM_001319034.1:c.3805C>T NP_001305963.1:p.Arg1269Ter
NM_004415.3:c.3805C>T NP_004406.2:p.Arg1269Ter
NM_004415.4:c.3805C>T MANE Select NP_004406.2:p.Arg1269Ter
NM_001008844.3:c.3582+223C>T NP_001008844.1:n.3582+223C>T
NM_001319034.2:c.3805C>T NP_001305963.1:p.Arg1269Ter
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