Canonical Allele Identifier: CA2062472525

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595035T= , CM000674.2:g.109595035T=	GRCh38
NC_000012.11:g.110032840T= , CM000674.1:g.110032840T=	GRCh37
NC_000012.10:g.108517223T=	NCBI36
NG_007702.1:g.26341T= , LRG_156:g.26341T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.50T=	ENSP00000439134.1:p.Ile17=
ENST00000546277.6:c.893T=	ENSP00000438153.2:p.Ile298=
ENST00000636529.2:n.532T=
ENST00000697195.1:c.*657T=	ENSP00000513181.1:n.*657T=
ENST00000697196.1:c.*66T=	ENSP00000513182.1:n.*66T=
ENST00000697197.1:n.2922T=
ENST00000697198.1:n.1277T=
ENST00000228510.8:c.893T= MANE Select	ENSP00000228510.3:p.Ile298=
ENST00000636529.1:c.518T=
ENST00000636996.1:c.741T=
ENST00000228510.7:c.893T=	ENSP00000228510.3:p.Ile298=
ENST00000392727.7:c.737T=	ENSP00000376487.3:p.Ile246=
ENST00000447878.6:c.*340T=	ENSP00000415555.2:n.*340T=
ENST00000537237.5:c.*566T=	ENSP00000445382.1:n.*566T=
ENST00000539575.4:c.893T=	ENSP00000443551.2:p.Ile298=
ENST00000539696.5:c.50T=	ENSP00000439134.1:p.Ile17=
ENST00000540353.1:n.3126T=
ENST00000625889.2:c.737T=	ENSP00000486846.1:p.Ile246=
ENST00000629016.2:c.*340T=	ENSP00000486804.1:n.*340T=
NM_000431.3:c.893T=	NP_000422.1:p.Ile298=
NM_001114185.2:c.893T=	NP_001107657.1:p.Ile298=
NM_001301182.1:c.737T=	NP_001288111.1:p.Ile246=
XM_011538372.1:c.893T=	XP_011536674.1:p.Ile298=
XM_017019313.2:c.737T=	XP_016874802.1:p.Ile246=
XM_017019314.1:c.893T=	XP_016874803.1:p.Ile298=
NM_000431.4:c.893T= MANE Select	NP_000422.1:p.Ile298=
NM_001114185.3:c.893T=	NP_001107657.1:p.Ile298=
NM_001301182.2:c.737T=	NP_001288111.1:p.Ile246=