Canonical Allele Identifier: CA2062472552

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595096C= , CM000674.2:g.109595096C=	GRCh38
NC_000012.11:g.110032901C= , CM000674.1:g.110032901C=	GRCh37
NC_000012.10:g.108517284C=	NCBI36
NG_007702.1:g.26402C= , LRG_156:g.26402C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.111C=	ENSP00000439134.1:p.Leu37=
ENST00000546277.6:c.954C=	ENSP00000438153.2:p.Leu318=
ENST00000636529.2:n.593C=
ENST00000697195.1:c.*718C=	ENSP00000513181.1:n.*718C=
ENST00000697196.1:c.*127C=	ENSP00000513182.1:n.*127C=
ENST00000697197.1:n.2983C=
ENST00000697198.1:n.1338C=
ENST00000228510.8:c.954C= MANE Select	ENSP00000228510.3:p.Leu318=
ENST00000636529.1:c.579C=
ENST00000636996.1:c.802C=
ENST00000228510.7:c.954C=	ENSP00000228510.3:p.Leu318=
ENST00000392727.7:c.798C=	ENSP00000376487.3:p.Leu266=
ENST00000447878.6:c.*401C=	ENSP00000415555.2:n.*401C=
ENST00000537237.5:c.*627C=	ENSP00000445382.1:n.*627C=
ENST00000539575.4:c.954C=	ENSP00000443551.2:p.Leu318=
ENST00000539696.5:c.111C=	ENSP00000439134.1:p.Leu37=
ENST00000540353.1:n.3187C=
ENST00000625889.2:c.798C=	ENSP00000486846.1:p.Leu266=
ENST00000629016.2:c.*401C=	ENSP00000486804.1:n.*401C=
NM_000431.3:c.954C=	NP_000422.1:p.Leu318=
NM_001114185.2:c.954C=	NP_001107657.1:p.Leu318=
NM_001301182.1:c.798C=	NP_001288111.1:p.Leu266=
XM_011538372.1:c.954C=	XP_011536674.1:p.Leu318=
XM_017019313.2:c.798C=	XP_016874802.1:p.Leu266=
XM_017019314.1:c.954C=	XP_016874803.1:p.Leu318=
NM_000431.4:c.954C= MANE Select	NP_000422.1:p.Leu318=
NM_001114185.3:c.954C=	NP_001107657.1:p.Leu318=
NM_001301182.2:c.798C=	NP_001288111.1:p.Leu266=