Canonical Allele Identifier: CA6779381
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 450567
dbSNP Id: rs763106439

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109591257C>T , CM000674.2:g.109591257C>T GRCh38
NC_000012.11:g.110029062C>T , CM000674.1:g.110029062C>T GRCh37
NC_000012.10:g.108513445C>T NCBI36
NG_007702.1:g.22563C>T , LRG_156:g.22563C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.-59C>T ENSP00000439134.1:n.-59C>T
ENST00000546277.6:c.785C>T ENSP00000438153.2:p.Ala262Val
ENST00000636529.2:n.424C>T
ENST00000697195.1:c.*549C>T ENSP00000513181.1:n.*549C>T
ENST00000697196.1:c.873C>T ENSP00000513182.1:p.Gly291=
ENST00000697197.1:n.2814C>T
ENST00000228510.8:c.785C>T MANE Select ENSP00000228510.3:p.Ala262Val
ENST00000636529.1:c.410C>T
ENST00000636996.1:c.633C>T
ENST00000228510.7:c.785C>T ENSP00000228510.3:p.Ala262Val
ENST00000392727.7:c.629C>T ENSP00000376487.3:p.Ala210Val
ENST00000447878.6:c.*232C>T ENSP00000415555.2:n.*232C>T
ENST00000537237.5:c.*458C>T ENSP00000445382.1:n.*458C>T
ENST00000539575.4:c.785C>T ENSP00000443551.2:p.Ala262Val
ENST00000539696.5:c.-59C>T ENSP00000439134.1:n.-59C>T
ENST00000540353.1:n.3018C>T
ENST00000625889.2:c.629C>T ENSP00000486846.1:p.Ala210Val
ENST00000629016.2:c.*232C>T ENSP00000486804.1:n.*232C>T
NM_000431.3:c.785C>T NP_000422.1:p.Ala262Val
NM_001114185.2:c.785C>T NP_001107657.1:p.Ala262Val
NM_001301182.1:c.629C>T NP_001288111.1:p.Ala210Val
XM_011538372.1:c.785C>T XP_011536674.1:p.Ala262Val
XM_017019313.2:c.629C>T XP_016874802.1:p.Ala210Val
XM_017019314.1:c.785C>T XP_016874803.1:p.Ala262Val
XM_024448982.1:c.785C>T XP_024304750.1:p.Ala262Val
NM_000431.4:c.785C>T MANE Select NP_000422.1:p.Ala262Val
NM_001114185.3:c.785C>T NP_001107657.1:p.Ala262Val
NM_001301182.2:c.629C>T NP_001288111.1:p.Ala210Val