Canonical Allele Identifier: CA050097

Gene: DSP

Linked Data

• ClinVar Variation Id: 911430
• ClinVar RCV Id: RCV001163892 ; RCV001163891 ; RCV001163893 ; RCV001192218 ; RCV001494003 ; RCV002393375
• dbSNP Id: rs754127386
• ExAC: 6:7585046 G / A
• gnomAD v2: 6-7585046-G-A
• gnomAD v3: 6-7584813-G-A
• gnomAD v4: 6-7584813-G-A
• MyVariant Identifiers: chr6:g.7585046G>A (hg19) ; chr6:g.7584813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.7584813G>A , CM000668.2:g.7584813G>A	GRCh38
NC_000006.11:g.7585046G>A , CM000668.1:g.7585046G>A	GRCh37
NC_000006.10:g.7530045G>A	NCBI36
NG_008803.1:g.48177G>A , LRG_423:g.48177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710359.1:c.6222G>A	ENSP00000518230.1:p.Val2074=
ENST00000379802.8:c.7551G>A MANE Select	ENSP00000369129.3:p.Val2517=
ENST00000379802.7:c.7551G>A	ENSP00000369129.3:p.Val2517=
ENST00000418664.2:c.5754G>A	ENSP00000396591.2:p.Val1918=
NM_001008844.1:c.5754G>A	NP_001008844.1:p.Val1918=
NM_004415.2:c.7551G>A , LRG_423t1:c.7551G>A	NP_004406.2:p.Val2517=
XM_011514323.1:c.6222G>A	XP_011512625.1:p.Val2074=
NM_001008844.2:c.5754G>A	NP_001008844.1:p.Val1918=
NM_001319034.1:c.6222G>A	NP_001305963.1:p.Val2074=
NM_004415.3:c.7551G>A	NP_004406.2:p.Val2517=
NM_004415.4:c.7551G>A MANE Select	NP_004406.2:p.Val2517=
NM_001008844.3:c.5754G>A	NP_001008844.1:p.Val1918=
NM_001319034.2:c.6222G>A	NP_001305963.1:p.Val2074=