Canonical Allele Identifier: CA362692356

Gene: DSP

Linked Data

• ClinVar Variation Id: 650884
• ClinVar RCV Id: RCV003532273
• dbSNP Id: rs1396768987
• gnomAD v2: 6-7584649-G-A
• gnomAD v4: 6-7584416-G-A
• COSMIC: COSM4679501
• MyVariant Identifiers: chr6:g.7584649G>A (hg19) ; chr6:g.7584416G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584416G>A , CM000668.2:g.7584416G>A	GRCh38
NC_000006.11:g.7584649G>A , CM000668.1:g.7584649G>A	GRCh37
NC_000006.10:g.7529648G>A	NCBI36
NG_008803.1:g.47780G>A , LRG_423:g.47780G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.5825G>A	ENSP00000518230.1:p.Arg1942His
ENST00000379802.8:c.7154G>A MANE Select	ENSP00000369129.3:p.Arg2385His
ENST00000379802.7:c.7154G>A	ENSP00000369129.3:p.Arg2385His
ENST00000418664.2:c.5357G>A	ENSP00000396591.2:p.Arg1786His
NM_001008844.1:c.5357G>A	NP_001008844.1:p.Arg1786His
NM_004415.2:c.7154G>A , LRG_423t1:c.7154G>A	NP_004406.2:p.Arg2385His
XM_011514323.1:c.5825G>A	XP_011512625.1:p.Arg1942His
NM_001008844.2:c.5357G>A	NP_001008844.1:p.Arg1786His
NM_001319034.1:c.5825G>A	NP_001305963.1:p.Arg1942His
NM_004415.3:c.7154G>A	NP_004406.2:p.Arg2385His
NM_004415.4:c.7154G>A MANE Select	NP_004406.2:p.Arg2385His
NM_001008844.3:c.5357G>A	NP_001008844.1:p.Arg1786His
NM_001319034.2:c.5825G>A	NP_001305963.1:p.Arg1942His