Canonical Allele Identifier: CA6779420
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 645386
ClinVar RCV Id: RCV000799449
dbSNP Id: rs371789705

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109595079G>A , CM000674.2:g.109595079G>A GRCh38
NC_000012.11:g.110032884G>A , CM000674.1:g.110032884G>A GRCh37
NC_000012.10:g.108517267G>A NCBI36
NG_007702.1:g.26385G>A , LRG_156:g.26385G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.94G>A ENSP00000439134.1:p.Ala32Thr
ENST00000546277.6:c.937G>A ENSP00000438153.2:p.Ala313Thr
ENST00000636529.2:n.576G>A
ENST00000697195.1:c.*701G>A ENSP00000513181.1:n.*701G>A
ENST00000697196.1:c.*110G>A ENSP00000513182.1:n.*110G>A
ENST00000697197.1:n.2966G>A
ENST00000697198.1:n.1321G>A
ENST00000228510.8:c.937G>A MANE Select ENSP00000228510.3:p.Ala313Thr
ENST00000636529.1:c.562G>A
ENST00000636996.1:c.785G>A
ENST00000228510.7:c.937G>A ENSP00000228510.3:p.Ala313Thr
ENST00000392727.7:c.781G>A ENSP00000376487.3:p.Ala261Thr
ENST00000447878.6:c.*384G>A ENSP00000415555.2:n.*384G>A
ENST00000537237.5:c.*610G>A ENSP00000445382.1:n.*610G>A
ENST00000539575.4:c.937G>A ENSP00000443551.2:p.Ala313Thr
ENST00000539696.5:c.94G>A ENSP00000439134.1:p.Ala32Thr
ENST00000540353.1:n.3170G>A
ENST00000625889.2:c.781G>A ENSP00000486846.1:p.Ala261Thr
ENST00000629016.2:c.*384G>A ENSP00000486804.1:n.*384G>A
NM_000431.3:c.937G>A NP_000422.1:p.Ala313Thr
NM_001114185.2:c.937G>A NP_001107657.1:p.Ala313Thr
NM_001301182.1:c.781G>A NP_001288111.1:p.Ala261Thr
XM_011538372.1:c.937G>A XP_011536674.1:p.Ala313Thr
XM_017019313.2:c.781G>A XP_016874802.1:p.Ala261Thr
XM_017019314.1:c.937G>A XP_016874803.1:p.Ala313Thr
NM_000431.4:c.937G>A MANE Select NP_000422.1:p.Ala313Thr
NM_001114185.3:c.937G>A NP_001107657.1:p.Ala313Thr
NM_001301182.2:c.781G>A NP_001288111.1:p.Ala261Thr