Canonical Allele Identifier: CA2062472526

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595037G= , CM000674.2:g.109595037G=	GRCh38
NC_000012.11:g.110032842G= , CM000674.1:g.110032842G=	GRCh37
NC_000012.10:g.108517225G=	NCBI36
NG_007702.1:g.26343G= , LRG_156:g.26343G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.52G=	ENSP00000439134.1:p.Asp18=
ENST00000546277.6:c.895G=	ENSP00000438153.2:p.Asp299=
ENST00000636529.2:n.534G=
ENST00000697195.1:c.*659G=	ENSP00000513181.1:n.*659G=
ENST00000697196.1:c.*68G=	ENSP00000513182.1:n.*68G=
ENST00000697197.1:n.2924G=
ENST00000697198.1:n.1279G=
ENST00000228510.8:c.895G= MANE Select	ENSP00000228510.3:p.Asp299=
ENST00000636529.1:c.520G=
ENST00000636996.1:c.743G=
ENST00000228510.7:c.895G=	ENSP00000228510.3:p.Asp299=
ENST00000392727.7:c.739G=	ENSP00000376487.3:p.Asp247=
ENST00000447878.6:c.*342G=	ENSP00000415555.2:n.*342G=
ENST00000537237.5:c.*568G=	ENSP00000445382.1:n.*568G=
ENST00000539575.4:c.895G=	ENSP00000443551.2:p.Asp299=
ENST00000539696.5:c.52G=	ENSP00000439134.1:p.Asp18=
ENST00000540353.1:n.3128G=
ENST00000625889.2:c.739G=	ENSP00000486846.1:p.Asp247=
ENST00000629016.2:c.*342G=	ENSP00000486804.1:n.*342G=
NM_000431.3:c.895G=	NP_000422.1:p.Asp299=
NM_001114185.2:c.895G=	NP_001107657.1:p.Asp299=
NM_001301182.1:c.739G=	NP_001288111.1:p.Asp247=
XM_011538372.1:c.895G=	XP_011536674.1:p.Asp299=
XM_017019313.2:c.739G=	XP_016874802.1:p.Asp247=
XM_017019314.1:c.895G=	XP_016874803.1:p.Asp299=
NM_000431.4:c.895G= MANE Select	NP_000422.1:p.Asp299=
NM_001114185.3:c.895G=	NP_001107657.1:p.Asp299=
NM_001301182.2:c.739G=	NP_001288111.1:p.Asp247=