Canonical Allele Identifier: CA386651072
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 1175837
ClinVar RCV Id: RCV001531168
dbSNP Id: rs2136253977

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109595181G>A , CM000674.2:g.109595181G>A GRCh38
NC_000012.11:g.110032986G>A , CM000674.1:g.110032986G>A GRCh37
NC_000012.10:g.108517369G>A NCBI36
NG_007702.1:g.26487G>A , LRG_156:g.26487G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.196G>A ENSP00000439134.1:p.Gly66Arg
ENST00000546277.6:c.1039G>A ENSP00000438153.2:p.Gly347Arg
ENST00000636529.2:n.678G>A
ENST00000697195.1:c.*803G>A ENSP00000513181.1:n.*803G>A
ENST00000697196.1:c.*212G>A ENSP00000513182.1:n.*212G>A
ENST00000697197.1:n.3068G>A
ENST00000697198.1:n.1423G>A
ENST00000228510.8:c.1039G>A MANE Select ENSP00000228510.3:p.Gly347Arg
ENST00000636529.1:c.664G>A
ENST00000636996.1:c.887G>A
ENST00000228510.7:c.1039G>A ENSP00000228510.3:p.Gly347Arg
ENST00000392727.7:c.883G>A ENSP00000376487.3:p.Gly295Arg
ENST00000447878.6:c.*486G>A ENSP00000415555.2:n.*486G>A
ENST00000537237.5:c.*712G>A ENSP00000445382.1:n.*712G>A
ENST00000539575.4:c.1039G>A ENSP00000443551.2:p.Gly347Arg
ENST00000539696.5:c.196G>A ENSP00000439134.1:p.Gly66Arg
ENST00000540353.1:n.3272G>A
ENST00000625889.2:c.883G>A ENSP00000486846.1:p.Gly295Arg
ENST00000629016.2:c.*486G>A ENSP00000486804.1:n.*486G>A
NM_000431.3:c.1039G>A NP_000422.1:p.Gly347Arg
NM_001114185.2:c.1039G>A NP_001107657.1:p.Gly347Arg
NM_001301182.1:c.883G>A NP_001288111.1:p.Gly295Arg
XM_011538372.1:c.1039G>A XP_011536674.1:p.Gly347Arg
XM_017019313.2:c.883G>A XP_016874802.1:p.Gly295Arg
XM_017019314.1:c.1039G>A XP_016874803.1:p.Gly347Arg
NM_000431.4:c.1039G>A MANE Select NP_000422.1:p.Gly347Arg
NM_001114185.3:c.1039G>A NP_001107657.1:p.Gly347Arg
NM_001301182.2:c.883G>A NP_001288111.1:p.Gly295Arg