Canonical Allele Identifier: CA051071

Gene: DSP

Linked Data

• ClinVar Variation Id: 426538
• ClinVar RCV Id: RCV000490099 ; RCV000814164 ; RCV004003427
• dbSNP Id: rs756976948
• ExAC: 6:7585380 G / A
• gnomAD v2: 6-7585380-G-A
• gnomAD v3: 6-7585147-G-A
• gnomAD v4: 6-7585147-G-A
• MyVariant Identifiers: chr6:g.7585380G>A (hg19) ; chr6:g.7585147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7585147G>A , CM000668.2:g.7585147G>A	GRCh38
NC_000006.11:g.7585380G>A , CM000668.1:g.7585380G>A	GRCh37
NC_000006.10:g.7530379G>A	NCBI36
NG_008803.1:g.48511G>A , LRG_423:g.48511G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6556G>A	ENSP00000518230.1:p.Glu2186Lys
ENST00000379802.8:c.7885G>A MANE Select	ENSP00000369129.3:p.Glu2629Lys
ENST00000379802.7:c.7885G>A	ENSP00000369129.3:p.Glu2629Lys
ENST00000418664.2:c.6088G>A	ENSP00000396591.2:p.Glu2030Lys
NM_001008844.1:c.6088G>A	NP_001008844.1:p.Glu2030Lys
NM_004415.2:c.7885G>A , LRG_423t1:c.7885G>A	NP_004406.2:p.Glu2629Lys
XM_011514323.1:c.6556G>A	XP_011512625.1:p.Glu2186Lys
NM_001008844.2:c.6088G>A	NP_001008844.1:p.Glu2030Lys
NM_001319034.1:c.6556G>A	NP_001305963.1:p.Glu2186Lys
NM_004415.3:c.7885G>A	NP_004406.2:p.Glu2629Lys
NM_004415.4:c.7885G>A MANE Select	NP_004406.2:p.Glu2629Lys
NM_001008844.3:c.6088G>A	NP_001008844.1:p.Glu2030Lys
NM_001319034.2:c.6556G>A	NP_001305963.1:p.Glu2186Lys