Canonical Allele Identifier: CA2062473114

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596513G= , CM000674.2:g.109596513G=	GRCh38
NC_000012.11:g.110034318G= , CM000674.1:g.110034318G=	GRCh37
NC_000012.10:g.108518701G=	NCBI36
NG_007702.1:g.27819G= , LRG_156:g.27819G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.284G=	ENSP00000439134.1:p.Gly95=
ENST00000546277.6:c.1127G=	ENSP00000438153.2:p.Gly376=
ENST00000636529.2:n.766G=
ENST00000697195.1:c.*891G=	ENSP00000513181.1:n.*891G=
ENST00000697196.1:c.*300G=	ENSP00000513182.1:n.*300G=
ENST00000697197.1:n.3156G=
ENST00000697198.1:n.1511G=
ENST00000228510.8:c.1127G= MANE Select	ENSP00000228510.3:p.Gly376=
ENST00000636529.1:c.752G=
ENST00000636996.1:c.975G=
ENST00000228510.7:c.1127G=	ENSP00000228510.3:p.Gly376=
ENST00000392727.7:c.971G=	ENSP00000376487.3:p.Gly324=
ENST00000447878.6:c.*574G=	ENSP00000415555.2:n.*574G=
ENST00000537237.5:c.*800G=	ENSP00000445382.1:n.*800G=
ENST00000539575.4:c.1127G=	ENSP00000443551.2:p.Gly376=
ENST00000539696.5:c.284G=	ENSP00000439134.1:p.Gly95=
ENST00000540353.1:n.3360G=
ENST00000625889.2:c.971G=	ENSP00000486846.1:p.Gly324=
ENST00000629016.2:c.*574G=	ENSP00000486804.1:n.*574G=
NM_000431.3:c.1127G=	NP_000422.1:p.Gly376=
NM_001114185.2:c.1127G=	NP_001107657.1:p.Gly376=
NM_001301182.1:c.971G=	NP_001288111.1:p.Gly324=
XM_011538372.1:c.1127G=	XP_011536674.1:p.Gly376=
XM_017019313.2:c.971G=	XP_016874802.1:p.Gly324=
XM_017019314.1:c.1127G=	XP_016874803.1:p.Gly376=
NM_000431.4:c.1127G= MANE Select	NP_000422.1:p.Gly376=
NM_001114185.3:c.1127G=	NP_001107657.1:p.Gly376=
NM_001301182.2:c.971G=	NP_001288111.1:p.Gly324=