Canonical Allele Identifier: CA2062472568

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595141C= , CM000674.2:g.109595141C=	GRCh38
NC_000012.11:g.110032946C= , CM000674.1:g.110032946C=	GRCh37
NC_000012.10:g.108517329C=	NCBI36
NG_007702.1:g.26447C= , LRG_156:g.26447C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.156C=	ENSP00000439134.1:p.Gly52=
ENST00000546277.6:c.999C=	ENSP00000438153.2:p.Gly333=
ENST00000636529.2:n.638C=
ENST00000697195.1:c.*763C=	ENSP00000513181.1:n.*763C=
ENST00000697196.1:c.*172C=	ENSP00000513182.1:n.*172C=
ENST00000697197.1:n.3028C=
ENST00000697198.1:n.1383C=
ENST00000228510.8:c.999C= MANE Select	ENSP00000228510.3:p.Gly333=
ENST00000636529.1:c.624C=
ENST00000636996.1:c.847C=
ENST00000228510.7:c.999C=	ENSP00000228510.3:p.Gly333=
ENST00000392727.7:c.843C=	ENSP00000376487.3:p.Gly281=
ENST00000447878.6:c.*446C=	ENSP00000415555.2:n.*446C=
ENST00000537237.5:c.*672C=	ENSP00000445382.1:n.*672C=
ENST00000539575.4:c.999C=	ENSP00000443551.2:p.Gly333=
ENST00000539696.5:c.156C=	ENSP00000439134.1:p.Gly52=
ENST00000540353.1:n.3232C=
ENST00000625889.2:c.843C=	ENSP00000486846.1:p.Gly281=
ENST00000629016.2:c.*446C=	ENSP00000486804.1:n.*446C=
NM_000431.3:c.999C=	NP_000422.1:p.Gly333=
NM_001114185.2:c.999C=	NP_001107657.1:p.Gly333=
NM_001301182.1:c.843C=	NP_001288111.1:p.Gly281=
XM_011538372.1:c.999C=	XP_011536674.1:p.Gly333=
XM_017019313.2:c.843C=	XP_016874802.1:p.Gly281=
XM_017019314.1:c.999C=	XP_016874803.1:p.Gly333=
NM_000431.4:c.999C= MANE Select	NP_000422.1:p.Gly333=
NM_001114185.3:c.999C=	NP_001107657.1:p.Gly333=
NM_001301182.2:c.843C=	NP_001288111.1:p.Gly281=