Canonical Allele Identifier: CA2062473080

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596432A= , CM000674.2:g.109596432A=	GRCh38
NC_000012.11:g.110034237A= , CM000674.1:g.110034237A=	GRCh37
NC_000012.10:g.108518620A=	NCBI36
NG_007702.1:g.27738A= , LRG_156:g.27738A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.203A=	ENSP00000439134.1:p.Glu68=
ENST00000546277.6:c.1046A=	ENSP00000438153.2:p.Glu349=
ENST00000636529.2:n.685A=
ENST00000697195.1:c.*810A=	ENSP00000513181.1:n.*810A=
ENST00000697196.1:c.*219A=	ENSP00000513182.1:n.*219A=
ENST00000697197.1:n.3075A=
ENST00000697198.1:n.1430A=
ENST00000228510.8:c.1046A= MANE Select	ENSP00000228510.3:p.Glu349=
ENST00000636529.1:c.671A=
ENST00000636996.1:c.894A=
ENST00000228510.7:c.1046A=	ENSP00000228510.3:p.Glu349=
ENST00000392727.7:c.890A=	ENSP00000376487.3:p.Glu297=
ENST00000447878.6:c.*493A=	ENSP00000415555.2:n.*493A=
ENST00000537237.5:c.*719A=	ENSP00000445382.1:n.*719A=
ENST00000539575.4:c.1046A=	ENSP00000443551.2:p.Glu349=
ENST00000539696.5:c.203A=	ENSP00000439134.1:p.Glu68=
ENST00000540353.1:n.3279A=
ENST00000625889.2:c.890A=	ENSP00000486846.1:p.Glu297=
ENST00000629016.2:c.*493A=	ENSP00000486804.1:n.*493A=
NM_000431.3:c.1046A=	NP_000422.1:p.Glu349=
NM_001114185.2:c.1046A=	NP_001107657.1:p.Glu349=
NM_001301182.1:c.890A=	NP_001288111.1:p.Glu297=
XM_011538372.1:c.1046A=	XP_011536674.1:p.Glu349=
XM_017019313.2:c.890A=	XP_016874802.1:p.Glu297=
XM_017019314.1:c.1046A=	XP_016874803.1:p.Glu349=
NM_000431.4:c.1046A= MANE Select	NP_000422.1:p.Glu349=
NM_001114185.3:c.1046A=	NP_001107657.1:p.Glu349=
NM_001301182.2:c.890A=	NP_001288111.1:p.Glu297=