Canonical Allele Identifier: CA448716924
Gene: DSP HGNC NCBI

Linked Data

ClinVar Variation Id: 927863
ClinVar RCV Id: RCV001191429
dbSNP Id: rs771553674
MyVariant Identifiers: chr6:g.7585410C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.7585177C>A , CM000668.2:g.7585177C>A GRCh38
NC_000006.11:g.7585410C>A , CM000668.1:g.7585410C>A GRCh37
NC_000006.10:g.7530409C>A NCBI36
NG_008803.1:g.48541C>A , LRG_423:g.48541C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710359.1:c.6586C>A ENSP00000518230.1:p.Arg2196=
ENST00000379802.8:c.7915C>A MANE Select ENSP00000369129.3:p.Arg2639=
ENST00000379802.7:c.7915C>A ENSP00000369129.3:p.Arg2639=
ENST00000418664.2:c.6118C>A ENSP00000396591.2:p.Arg2040=
NM_001008844.1:c.6118C>A NP_001008844.1:p.Arg2040=
NM_004415.2:c.7915C>A , LRG_423t1:c.7915C>A NP_004406.2:p.Arg2639=
XM_011514323.1:c.6586C>A XP_011512625.1:p.Arg2196=
NM_001008844.2:c.6118C>A NP_001008844.1:p.Arg2040=
NM_001319034.1:c.6586C>A NP_001305963.1:p.Arg2196=
NM_004415.3:c.7915C>A NP_004406.2:p.Arg2639=
NM_004415.4:c.7915C>A MANE Select NP_004406.2:p.Arg2639=
NM_001008844.3:c.6118C>A NP_001008844.1:p.Arg2040=
NM_001319034.2:c.6586C>A NP_001305963.1:p.Arg2196=