Canonical Allele Identifier: CA2062472583

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595171C= , CM000674.2:g.109595171C=	GRCh38
NC_000012.11:g.110032976C= , CM000674.1:g.110032976C=	GRCh37
NC_000012.10:g.108517359C=	NCBI36
NG_007702.1:g.26477C= , LRG_156:g.26477C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.186C=	ENSP00000439134.1:p.Leu62=
ENST00000546277.6:c.1029C=	ENSP00000438153.2:p.Leu343=
ENST00000636529.2:n.668C=
ENST00000697195.1:c.*793C=	ENSP00000513181.1:n.*793C=
ENST00000697196.1:c.*202C=	ENSP00000513182.1:n.*202C=
ENST00000697197.1:n.3058C=
ENST00000697198.1:n.1413C=
ENST00000228510.8:c.1029C= MANE Select	ENSP00000228510.3:p.Leu343=
ENST00000636529.1:c.654C=
ENST00000636996.1:c.877C=
ENST00000228510.7:c.1029C=	ENSP00000228510.3:p.Leu343=
ENST00000392727.7:c.873C=	ENSP00000376487.3:p.Leu291=
ENST00000447878.6:c.*476C=	ENSP00000415555.2:n.*476C=
ENST00000537237.5:c.*702C=	ENSP00000445382.1:n.*702C=
ENST00000539575.4:c.1029C=	ENSP00000443551.2:p.Leu343=
ENST00000539696.5:c.186C=	ENSP00000439134.1:p.Leu62=
ENST00000540353.1:n.3262C=
ENST00000625889.2:c.873C=	ENSP00000486846.1:p.Leu291=
ENST00000629016.2:c.*476C=	ENSP00000486804.1:n.*476C=
NM_000431.3:c.1029C=	NP_000422.1:p.Leu343=
NM_001114185.2:c.1029C=	NP_001107657.1:p.Leu343=
NM_001301182.1:c.873C=	NP_001288111.1:p.Leu291=
XM_011538372.1:c.1029C=	XP_011536674.1:p.Leu343=
XM_017019313.2:c.873C=	XP_016874802.1:p.Leu291=
XM_017019314.1:c.1029C=	XP_016874803.1:p.Leu343=
NM_000431.4:c.1029C= MANE Select	NP_000422.1:p.Leu343=
NM_001114185.3:c.1029C=	NP_001107657.1:p.Leu343=
NM_001301182.2:c.873C=	NP_001288111.1:p.Leu291=