Canonical Allele Identifier: CA050314

Gene: DSP

Linked Data

• ClinVar Variation Id: 228649
• ClinVar RCV Id: RCV000218025 ; RCV000335658 ; RCV000278298 ; RCV000378413 ; RCV000814505 ; RCV001177077 ; RCV001557999 ; RCV002390579
• dbSNP Id: rs142078450
• ExAC: 6:7585117 G / A
• gnomAD v2: 6-7585117-G-A
• gnomAD v3: 6-7584884-G-A
• gnomAD v4: 6-7584884-G-A
• MyVariant Identifiers: chr6:g.7585117G>A (hg19) ; chr6:g.7584884G>A (hg38)
• PubMed: PMID:20129281 ; PMID:21723241 ; PMID:24070718 ; PMID:24125834 ; PMID:26138720

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584884G>A , CM000668.2:g.7584884G>A	GRCh38
NC_000006.11:g.7585117G>A , CM000668.1:g.7585117G>A	GRCh37
NC_000006.10:g.7530116G>A	NCBI36
NG_008803.1:g.48248G>A , LRG_423:g.48248G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6293G>A	ENSP00000518230.1:p.Arg2098Lys
ENST00000379802.8:c.7622G>A MANE Select	ENSP00000369129.3:p.Arg2541Lys
ENST00000379802.7:c.7622G>A	ENSP00000369129.3:p.Arg2541Lys
ENST00000418664.2:c.5825G>A	ENSP00000396591.2:p.Arg1942Lys
NM_001008844.1:c.5825G>A	NP_001008844.1:p.Arg1942Lys
NM_004415.2:c.7622G>A , LRG_423t1:c.7622G>A	NP_004406.2:p.Arg2541Lys
XM_011514323.1:c.6293G>A	XP_011512625.1:p.Arg2098Lys
NM_001008844.2:c.5825G>A	NP_001008844.1:p.Arg1942Lys
NM_001319034.1:c.6293G>A	NP_001305963.1:p.Arg2098Lys
NM_004415.3:c.7622G>A	NP_004406.2:p.Arg2541Lys
NM_004415.4:c.7622G>A MANE Select	NP_004406.2:p.Arg2541Lys
NM_001008844.3:c.5825G>A	NP_001008844.1:p.Arg1942Lys
NM_001319034.2:c.6293G>A	NP_001305963.1:p.Arg2098Lys