Canonical Allele Identifier: CA2062472567

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595129C= , CM000674.2:g.109595129C=	GRCh38
NC_000012.11:g.110032934C= , CM000674.1:g.110032934C=	GRCh37
NC_000012.10:g.108517317C=	NCBI36
NG_007702.1:g.26435C= , LRG_156:g.26435C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.144C=	ENSP00000439134.1:p.Ser48=
ENST00000546277.6:c.987C=	ENSP00000438153.2:p.Ser329=
ENST00000636529.2:n.626C=
ENST00000697195.1:c.*751C=	ENSP00000513181.1:n.*751C=
ENST00000697196.1:c.*160C=	ENSP00000513182.1:n.*160C=
ENST00000697197.1:n.3016C=
ENST00000697198.1:n.1371C=
ENST00000228510.8:c.987C= MANE Select	ENSP00000228510.3:p.Ser329=
ENST00000636529.1:c.612C=
ENST00000636996.1:c.835C=
ENST00000228510.7:c.987C=	ENSP00000228510.3:p.Ser329=
ENST00000392727.7:c.831C=	ENSP00000376487.3:p.Ser277=
ENST00000447878.6:c.*434C=	ENSP00000415555.2:n.*434C=
ENST00000537237.5:c.*660C=	ENSP00000445382.1:n.*660C=
ENST00000539575.4:c.987C=	ENSP00000443551.2:p.Ser329=
ENST00000539696.5:c.144C=	ENSP00000439134.1:p.Ser48=
ENST00000540353.1:n.3220C=
ENST00000625889.2:c.831C=	ENSP00000486846.1:p.Ser277=
ENST00000629016.2:c.*434C=	ENSP00000486804.1:n.*434C=
NM_000431.3:c.987C=	NP_000422.1:p.Ser329=
NM_001114185.2:c.987C=	NP_001107657.1:p.Ser329=
NM_001301182.1:c.831C=	NP_001288111.1:p.Ser277=
XM_011538372.1:c.987C=	XP_011536674.1:p.Ser329=
XM_017019313.2:c.831C=	XP_016874802.1:p.Ser277=
XM_017019314.1:c.987C=	XP_016874803.1:p.Ser329=
NM_000431.4:c.987C= MANE Select	NP_000422.1:p.Ser329=
NM_001114185.3:c.987C=	NP_001107657.1:p.Ser329=
NM_001301182.2:c.831C=	NP_001288111.1:p.Ser277=