Canonical Allele Identifier: CA007320

Gene: DSP

Linked Data

• ClinVar Variation Id: 163287
• ClinVar RCV Id: RCV000150581 ; RCV000157210 ; RCV000245063 ; RCV000262145 ; RCV000319713 ; RCV000369032 ; RCV000490472 ; RCV000771821 ; RCV000987654 ; RCV001086541 ; RCV001704081 ; RCV003945184 ; RCV003318355
• dbSNP Id: rs116888866
• ExAC: 6:7585411 G / A
• gnomAD v2: 6-7585411-G-A
• gnomAD v3: 6-7585178-G-A
• gnomAD v4: 6-7585178-G-A
• MyVariant Identifiers: chr6:g.7585411G>A (hg19) ; chr6:g.7585178G>A (hg38)
• PubMed: PMID:18632414 ; PMID:19924139 ; PMID:23861362 ; PMID:23911551 ; PMID:24125834 ; PMID:25225338 ; PMID:25693453 ; PMID:26585738

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585178G>A , CM000668.2:g.7585178G>A	GRCh38
NC_000006.11:g.7585411G>A , CM000668.1:g.7585411G>A	GRCh37
NC_000006.10:g.7530410G>A	NCBI36
NG_008803.1:g.48542G>A , LRG_423:g.48542G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6587G>A	ENSP00000518230.1:p.Arg2196Gln
ENST00000379802.8:c.7916G>A MANE Select	ENSP00000369129.3:p.Arg2639Gln
ENST00000379802.7:c.7916G>A	ENSP00000369129.3:p.Arg2639Gln
ENST00000418664.2:c.6119G>A	ENSP00000396591.2:p.Arg2040Gln
NM_001008844.1:c.6119G>A	NP_001008844.1:p.Arg2040Gln
NM_004415.2:c.7916G>A , LRG_423t1:c.7916G>A	NP_004406.2:p.Arg2639Gln
XM_011514323.1:c.6587G>A	XP_011512625.1:p.Arg2196Gln
NM_001008844.2:c.6119G>A	NP_001008844.1:p.Arg2040Gln
NM_001319034.1:c.6587G>A	NP_001305963.1:p.Arg2196Gln
NM_004415.3:c.7916G>A	NP_004406.2:p.Arg2639Gln
NM_004415.4:c.7916G>A MANE Select	NP_004406.2:p.Arg2639Gln
NM_001008844.3:c.6119G>A	NP_001008844.1:p.Arg2040Gln
NM_001319034.2:c.6587G>A	NP_001305963.1:p.Arg2196Gln