Canonical Allele Identifier: CA051657

Gene: DSP

Linked Data

• ClinVar Variation Id: 700736
• ClinVar RCV Id: RCV000869036 ; RCV001811523 ; RCV002416035 ; RCV003532296
• dbSNP Id: rs376184294
• ExAC: 6:7565630 G / A
• gnomAD v2: 6-7565630-G-A
• gnomAD v3: 6-7565397-G-A
• gnomAD v4: 6-7565397-G-A
• MyVariant Identifiers: chr6:g.7565630G>A (hg19) ; chr6:g.7565397G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7565397G>A , CM000668.2:g.7565397G>A	GRCh38
NC_000006.11:g.7565630G>A , CM000668.1:g.7565630G>A	GRCh37
NC_000006.10:g.7510629G>A	NCBI36
NG_008803.1:g.28761G>A , LRG_423:g.28761G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.816G>A	ENSP00000518230.1:p.Leu272=
ENST00000682228.1:n.140G>A
ENST00000379802.8:c.816G>A MANE Select	ENSP00000369129.3:p.Leu272=
ENST00000379802.7:c.816G>A	ENSP00000369129.3:p.Leu272=
ENST00000418664.2:c.816G>A	ENSP00000396591.2:p.Leu272=
ENST00000506617.1:n.334G>A
NM_001008844.1:c.816G>A	NP_001008844.1:p.Leu272=
NM_004415.2:c.816G>A , LRG_423t1:c.816G>A	NP_004406.2:p.Leu272=
XM_011514323.1:c.816G>A	XP_011512625.1:p.Leu272=
NM_001008844.2:c.816G>A	NP_001008844.1:p.Leu272=
NM_001319034.1:c.816G>A	NP_001305963.1:p.Leu272=
NM_004415.3:c.816G>A	NP_004406.2:p.Leu272=
NM_004415.4:c.816G>A MANE Select	NP_004406.2:p.Leu272=
NM_001008844.3:c.816G>A	NP_001008844.1:p.Leu272=
NM_001319034.2:c.816G>A	NP_001305963.1:p.Leu272=