Canonical Allele Identifier: CA2062473081

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596433G= , CM000674.2:g.109596433G=	GRCh38
NC_000012.11:g.110034238G= , CM000674.1:g.110034238G=	GRCh37
NC_000012.10:g.108518621G=	NCBI36
NG_007702.1:g.27739G= , LRG_156:g.27739G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.204G=	ENSP00000439134.1:p.Glu68=
ENST00000546277.6:c.1047G=	ENSP00000438153.2:p.Glu349=
ENST00000636529.2:n.686G=
ENST00000697195.1:c.*811G=	ENSP00000513181.1:n.*811G=
ENST00000697196.1:c.*220G=	ENSP00000513182.1:n.*220G=
ENST00000697197.1:n.3076G=
ENST00000697198.1:n.1431G=
ENST00000228510.8:c.1047G= MANE Select	ENSP00000228510.3:p.Glu349=
ENST00000636529.1:c.672G=
ENST00000636996.1:c.895G=
ENST00000228510.7:c.1047G=	ENSP00000228510.3:p.Glu349=
ENST00000392727.7:c.891G=	ENSP00000376487.3:p.Glu297=
ENST00000447878.6:c.*494G=	ENSP00000415555.2:n.*494G=
ENST00000537237.5:c.*720G=	ENSP00000445382.1:n.*720G=
ENST00000539575.4:c.1047G=	ENSP00000443551.2:p.Glu349=
ENST00000539696.5:c.204G=	ENSP00000439134.1:p.Glu68=
ENST00000540353.1:n.3280G=
ENST00000625889.2:c.891G=	ENSP00000486846.1:p.Glu297=
ENST00000629016.2:c.*494G=	ENSP00000486804.1:n.*494G=
NM_000431.3:c.1047G=	NP_000422.1:p.Glu349=
NM_001114185.2:c.1047G=	NP_001107657.1:p.Glu349=
NM_001301182.1:c.891G=	NP_001288111.1:p.Glu297=
XM_011538372.1:c.1047G=	XP_011536674.1:p.Glu349=
XM_017019313.2:c.891G=	XP_016874802.1:p.Glu297=
XM_017019314.1:c.1047G=	XP_016874803.1:p.Glu349=
NM_000431.4:c.1047G= MANE Select	NP_000422.1:p.Glu349=
NM_001114185.3:c.1047G=	NP_001107657.1:p.Glu349=
NM_001301182.2:c.891G=	NP_001288111.1:p.Glu297=