Canonical Allele Identifier: CA1353006

Gene: DSTYK

Linked Data

• ClinVar Variation Id: 60684
• ClinVar RCV Id: RCV000054497 ; RCV001853078 ; RCV003387748 ; RCV003905015
• dbSNP Id: rs201091809
• ExAC: 1:205156545 C / T
• gnomAD v2: 1-205156545-C-T
• gnomAD v3: 1-205187417-C-T
• gnomAD v4: 1-205187417-C-T
• MyVariant Identifiers: chr1:g.205156545C>T (hg19) ; chr1:g.205187417C>T (hg38)
• PubMed: PMID:17273976 ; PMID:23862974 ; PMID:28566479

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205187417C>T , CM000663.2:g.205187417C>T	GRCh38
NC_000001.10:g.205156545C>T , CM000663.1:g.205156545C>T	GRCh37
NC_000001.9:g.203423168C>T	NCBI36
NG_033904.1:g.29183G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367162.8:c.654+1G>A MANE Select	ENSP00000356130.3:n.654+1G>A
ENST00000367161.7:c.654+1G>A	ENSP00000356129.3:n.654+1G>A
ENST00000367162.7:c.654+1G>A	ENSP00000356130.3:n.654+1G>A
NM_015375.2:c.654+1G>A	NP_056190.1:n.654+1G>A
NM_199462.2:c.654+1G>A	NP_955749.1:n.654+1G>A
XM_011509392.1:c.627+28G>A	XP_011507694.1:n.627+28G>A
XM_011509393.1:c.14+1G>A	XP_011507695.1:n.14+1G>A
XM_011509394.1:c.28-17585G>A	XP_011507696.1:n.28-17585G>A
XM_011509392.2:c.627+28G>A	XP_011507694.1:n.627+28G>A
XM_011509393.2:c.14+1G>A	XP_011507695.1:n.14+1G>A
XM_011509394.2:c.28-17585G>A	XP_011507696.1:n.28-17585G>A
NM_015375.3:c.654+1G>A MANE Select	NP_056190.1:n.654+1G>A
NM_199462.3:c.654+1G>A	NP_955749.1:n.654+1G>A