Canonical Allele Identifier: CA362689440

Gene: DSP

Linked Data

• ClinVar Variation Id: 2636860
• ClinVar RCV Id: RCV003421063 ; RCV003533859
• dbSNP Id: rs1471613374
• gnomAD v2: 6-7583296-G-A
• gnomAD v4: 6-7583063-G-A
• COSMIC: COSM4901618
• MyVariant Identifiers: chr6:g.7583296G>A (hg19) ; chr6:g.7583063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7583063G>A , CM000668.2:g.7583063G>A	GRCh38
NC_000006.11:g.7583296G>A , CM000668.1:g.7583296G>A	GRCh37
NC_000006.10:g.7528295G>A	NCBI36
NG_008803.1:g.46427G>A , LRG_423:g.46427G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000710359.1:c.4472G>A	ENSP00000518230.1:p.Arg1491Gln
ENST00000379802.8:c.5801G>A MANE Select	ENSP00000369129.3:p.Arg1934Gln
ENST00000379802.7:c.5801G>A	ENSP00000369129.3:p.Arg1934Gln
ENST00000418664.2:c.4004G>A	ENSP00000396591.2:p.Arg1335Gln
NM_001008844.1:c.4004G>A	NP_001008844.1:p.Arg1335Gln
NM_004415.2:c.5801G>A , LRG_423t1:c.5801G>A	NP_004406.2:p.Arg1934Gln
XM_011514323.1:c.4472G>A	XP_011512625.1:p.Arg1491Gln
NM_001008844.2:c.4004G>A	NP_001008844.1:p.Arg1335Gln
NM_001319034.1:c.4472G>A	NP_001305963.1:p.Arg1491Gln
NM_004415.3:c.5801G>A	NP_004406.2:p.Arg1934Gln
NM_004415.4:c.5801G>A MANE Select	NP_004406.2:p.Arg1934Gln
NM_001008844.3:c.4004G>A	NP_001008844.1:p.Arg1335Gln
NM_001319034.2:c.4472G>A	NP_001305963.1:p.Arg1491Gln