Canonical Allele Identifier: CA344397099

Gene: DSTYK

Linked Data

• ClinVar Variation Id: 2089481
• ClinVar RCV Id: RCV003005574
• gnomAD v4: 1-205163758-C-T
• MyVariant Identifiers: chr1:g.205132886C>T (hg19) ; chr1:g.205163758C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205163758C>T , CM000663.2:g.205163758C>T	GRCh38
NC_000001.10:g.205132886C>T , CM000663.1:g.205132886C>T	GRCh37
NC_000001.9:g.203399509C>T	NCBI36
NG_033904.1:g.52842G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367162.8:c.1522G>A MANE Select	ENSP00000356130.3:p.Val508Ile
ENST00000367161.7:c.1522G>A	ENSP00000356129.3:p.Val508Ile
ENST00000367162.7:c.1522G>A	ENSP00000356130.3:p.Val508Ile
ENST00000615388.1:c.-89-7G>A	ENSP00000478016.1:n.-89-7G>A
NM_015375.2:c.1522G>A	NP_056190.1:p.Val508Ile
NM_199462.2:c.1522G>A	NP_955749.1:p.Val508Ile
XM_011509392.1:c.1495G>A	XP_011507694.1:p.Val499Ile
XM_011509393.1:c.937G>A	XP_011507695.1:p.Val313Ile
XM_011509394.1:c.895G>A	XP_011507696.1:p.Val299Ile
XM_011509392.2:c.1495G>A	XP_011507694.1:p.Val499Ile
XM_011509393.2:c.937G>A	XP_011507695.1:p.Val313Ile
XM_011509394.2:c.895G>A	XP_011507696.1:p.Val299Ile
NM_015375.3:c.1522G>A MANE Select	NP_056190.1:p.Val508Ile
NM_199462.3:c.1522G>A	NP_955749.1:p.Val508Ile