Canonical Allele Identifier: CA1352639

Gene: DSTYK

Linked Data

• ClinVar Variation Id: 2236475
• ClinVar RCV Id: RCV003111668 ; RCV004092748
• dbSNP Id: rs373307614
• ExAC: 1:205128716 T / C
• gnomAD v2: 1-205128716-T-C
• gnomAD v3: 1-205159588-T-C
• gnomAD v4: 1-205159588-T-C
• MyVariant Identifiers: chr1:g.205128716T>C (hg19) ; chr1:g.205159588T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205159588T>C , CM000663.2:g.205159588T>C	GRCh38
NC_000001.10:g.205128716T>C , CM000663.1:g.205128716T>C	GRCh37
NC_000001.9:g.203395339T>C	NCBI36
NG_033904.1:g.57012A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367162.8:c.2197A>G MANE Select	ENSP00000356130.3:p.Ile733Val
ENST00000367161.7:c.2197A>G	ENSP00000356129.3:p.Ile733Val
ENST00000367162.7:c.2197A>G	ENSP00000356130.3:p.Ile733Val
NM_015375.2:c.2197A>G	NP_056190.1:p.Ile733Val
NM_199462.2:c.2197A>G	NP_955749.1:p.Ile733Val
XM_011509392.1:c.2170A>G	XP_011507694.1:p.Ile724Val
XM_011509393.1:c.1612A>G	XP_011507695.1:p.Ile538Val
XM_011509394.1:c.1570A>G	XP_011507696.1:p.Ile524Val
XM_011509392.2:c.2170A>G	XP_011507694.1:p.Ile724Val
XM_011509393.2:c.1612A>G	XP_011507695.1:p.Ile538Val
XM_011509394.2:c.1570A>G	XP_011507696.1:p.Ile524Val
NM_015375.3:c.2197A>G MANE Select	NP_056190.1:p.Ile733Val
NM_199462.3:c.2197A>G	NP_955749.1:p.Ile733Val