Canonical Allele Identifier: CA362689181

Gene: DSP

Linked Data

• ClinVar Variation Id: 952754
• ClinVar RCV Id: RCV001224923 ; RCV001526201
• dbSNP Id: rs1159494439
• MyVariant Identifiers: chr6:g.7583178C>G (hg19) ; chr6:g.7582945C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7582945C>G , CM000668.2:g.7582945C>G	GRCh38
NC_000006.11:g.7583178C>G , CM000668.1:g.7583178C>G	GRCh37
NC_000006.10:g.7528177C>G	NCBI36
NG_008803.1:g.46309C>G , LRG_423:g.46309C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.4354C>G	ENSP00000518230.1:p.Leu1452Val
ENST00000379802.8:c.5683C>G MANE Select	ENSP00000369129.3:p.Leu1895Val
ENST00000379802.7:c.5683C>G	ENSP00000369129.3:p.Leu1895Val
ENST00000418664.2:c.3886C>G	ENSP00000396591.2:p.Leu1296Val
NM_001008844.1:c.3886C>G	NP_001008844.1:p.Leu1296Val
NM_004415.2:c.5683C>G , LRG_423t1:c.5683C>G	NP_004406.2:p.Leu1895Val
XM_011514323.1:c.4354C>G	XP_011512625.1:p.Leu1452Val
NM_001008844.2:c.3886C>G	NP_001008844.1:p.Leu1296Val
NM_001319034.1:c.4354C>G	NP_001305963.1:p.Leu1452Val
NM_004415.3:c.5683C>G	NP_004406.2:p.Leu1895Val
NM_004415.4:c.5683C>G MANE Select	NP_004406.2:p.Leu1895Val
NM_001008844.3:c.3886C>G	NP_001008844.1:p.Leu1296Val
NM_001319034.2:c.4354C>G	NP_001305963.1:p.Leu1452Val