Canonical Allele Identifier: CA2062472554
Gene: MVK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.109595103G= , CM000674.2:g.109595103G= GRCh38
NC_000012.11:g.110032908G= , CM000674.1:g.110032908G= GRCh37
NC_000012.10:g.108517291G= NCBI36
NG_007702.1:g.26409G= , LRG_156:g.26409G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000539696.6:c.118G= ENSP00000439134.1:p.Val40=
ENST00000546277.6:c.961G= ENSP00000438153.2:p.Val321=
ENST00000636529.2:n.600G=
ENST00000697195.1:c.*725G= ENSP00000513181.1:n.*725G=
ENST00000697196.1:c.*134G= ENSP00000513182.1:n.*134G=
ENST00000697197.1:n.2990G=
ENST00000697198.1:n.1345G=
ENST00000228510.8:c.961G= MANE Select ENSP00000228510.3:p.Val321=
ENST00000636529.1:c.586G=
ENST00000636996.1:c.809G=
ENST00000228510.7:c.961G= ENSP00000228510.3:p.Val321=
ENST00000392727.7:c.805G= ENSP00000376487.3:p.Val269=
ENST00000447878.6:c.*408G= ENSP00000415555.2:n.*408G=
ENST00000537237.5:c.*634G= ENSP00000445382.1:n.*634G=
ENST00000539575.4:c.961G= ENSP00000443551.2:p.Val321=
ENST00000539696.5:c.118G= ENSP00000439134.1:p.Val40=
ENST00000540353.1:n.3194G=
ENST00000625889.2:c.805G= ENSP00000486846.1:p.Val269=
ENST00000629016.2:c.*408G= ENSP00000486804.1:n.*408G=
NM_000431.3:c.961G= NP_000422.1:p.Val321=
NM_001114185.2:c.961G= NP_001107657.1:p.Val321=
NM_001301182.1:c.805G= NP_001288111.1:p.Val269=
XM_011538372.1:c.961G= XP_011536674.1:p.Val321=
XM_017019313.2:c.805G= XP_016874802.1:p.Val269=
XM_017019314.1:c.961G= XP_016874803.1:p.Val321=
NM_000431.4:c.961G= MANE Select NP_000422.1:p.Val321=
NM_001114185.3:c.961G= NP_001107657.1:p.Val321=
NM_001301182.2:c.805G= NP_001288111.1:p.Val269=