Canonical Allele Identifier: CA121778
Gene: MVK HGNC NCBI

Linked Data

ClinVar Variation Id: 11930
dbSNP Id: rs104895317

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109595142G>A , CM000674.2:g.109595142G>A GRCh38
NC_000012.11:g.110032947G>A , CM000674.1:g.110032947G>A GRCh37
NC_000012.10:g.108517330G>A NCBI36
NG_007702.1:g.26448G>A , LRG_156:g.26448G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000539696.6:c.157G>A ENSP00000439134.1:p.Ala53Thr
ENST00000546277.6:c.1000G>A ENSP00000438153.2:p.Ala334Thr
ENST00000636529.2:n.639G>A
ENST00000697195.1:c.*764G>A ENSP00000513181.1:n.*764G>A
ENST00000697196.1:c.*173G>A ENSP00000513182.1:n.*173G>A
ENST00000697197.1:n.3029G>A
ENST00000697198.1:n.1384G>A
ENST00000228510.8:c.1000G>A MANE Select ENSP00000228510.3:p.Ala334Thr
ENST00000636529.1:c.625G>A
ENST00000636996.1:c.848G>A
ENST00000228510.7:c.1000G>A ENSP00000228510.3:p.Ala334Thr
ENST00000392727.7:c.844G>A ENSP00000376487.3:p.Ala282Thr
ENST00000447878.6:c.*447G>A ENSP00000415555.2:n.*447G>A
ENST00000537237.5:c.*673G>A ENSP00000445382.1:n.*673G>A
ENST00000539575.4:c.1000G>A ENSP00000443551.2:p.Ala334Thr
ENST00000539696.5:c.157G>A ENSP00000439134.1:p.Ala53Thr
ENST00000540353.1:n.3233G>A
ENST00000625889.2:c.844G>A ENSP00000486846.1:p.Ala282Thr
ENST00000629016.2:c.*447G>A ENSP00000486804.1:n.*447G>A
NM_000431.3:c.1000G>A NP_000422.1:p.Ala334Thr
NM_001114185.2:c.1000G>A NP_001107657.1:p.Ala334Thr
NM_001301182.1:c.844G>A NP_001288111.1:p.Ala282Thr
XM_011538372.1:c.1000G>A XP_011536674.1:p.Ala334Thr
XM_017019313.2:c.844G>A XP_016874802.1:p.Ala282Thr
XM_017019314.1:c.1000G>A XP_016874803.1:p.Ala334Thr
NM_000431.4:c.1000G>A MANE Select NP_000422.1:p.Ala334Thr
NM_001114185.3:c.1000G>A NP_001107657.1:p.Ala334Thr
NM_001301182.2:c.844G>A NP_001288111.1:p.Ala282Thr