Canonical Allele Identifier: CA362689749

Gene: DSP

Linked Data

• ClinVar Variation Id: 426436
• ClinVar RCV Id: RCV000489261 ; RCV000769234 ; RCV004003425 ; RCV003766745
• dbSNP Id: rs1085307622
• COSMIC: COSM5572426
• MyVariant Identifiers: chr6:g.7583437A>G (hg19) ; chr6:g.7583204A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583204A>G , CM000668.2:g.7583204A>G	GRCh38
NC_000006.11:g.7583437A>G , CM000668.1:g.7583437A>G	GRCh37
NC_000006.10:g.7528436A>G	NCBI36
NG_008803.1:g.46568A>G , LRG_423:g.46568A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4613A>G	ENSP00000518230.1:p.Tyr1538Cys
ENST00000379802.8:c.5942A>G MANE Select	ENSP00000369129.3:p.Tyr1981Cys
ENST00000379802.7:c.5942A>G	ENSP00000369129.3:p.Tyr1981Cys
ENST00000418664.2:c.4145A>G	ENSP00000396591.2:p.Tyr1382Cys
NM_001008844.1:c.4145A>G	NP_001008844.1:p.Tyr1382Cys
NM_004415.2:c.5942A>G , LRG_423t1:c.5942A>G	NP_004406.2:p.Tyr1981Cys
XM_011514323.1:c.4613A>G	XP_011512625.1:p.Tyr1538Cys
NM_001008844.2:c.4145A>G	NP_001008844.1:p.Tyr1382Cys
NM_001319034.1:c.4613A>G	NP_001305963.1:p.Tyr1538Cys
NM_004415.3:c.5942A>G	NP_004406.2:p.Tyr1981Cys
NM_004415.4:c.5942A>G MANE Select	NP_004406.2:p.Tyr1981Cys
NM_001008844.3:c.4145A>G	NP_001008844.1:p.Tyr1382Cys
NM_001319034.2:c.4613A>G	NP_001305963.1:p.Tyr1538Cys