Canonical Allele Identifier: CA2062472549

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595091C= , CM000674.2:g.109595091C=	GRCh38
NC_000012.11:g.110032896C= , CM000674.1:g.110032896C=	GRCh37
NC_000012.10:g.108517279C=	NCBI36
NG_007702.1:g.26397C= , LRG_156:g.26397C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.106C=	ENSP00000439134.1:p.Gln36=
ENST00000546277.6:c.949C=	ENSP00000438153.2:p.Gln317=
ENST00000636529.2:n.588C=
ENST00000697195.1:c.*713C=	ENSP00000513181.1:n.*713C=
ENST00000697196.1:c.*122C=	ENSP00000513182.1:n.*122C=
ENST00000697197.1:n.2978C=
ENST00000697198.1:n.1333C=
ENST00000228510.8:c.949C= MANE Select	ENSP00000228510.3:p.Gln317=
ENST00000636529.1:c.574C=
ENST00000636996.1:c.797C=
ENST00000228510.7:c.949C=	ENSP00000228510.3:p.Gln317=
ENST00000392727.7:c.793C=	ENSP00000376487.3:p.Gln265=
ENST00000447878.6:c.*396C=	ENSP00000415555.2:n.*396C=
ENST00000537237.5:c.*622C=	ENSP00000445382.1:n.*622C=
ENST00000539575.4:c.949C=	ENSP00000443551.2:p.Gln317=
ENST00000539696.5:c.106C=	ENSP00000439134.1:p.Gln36=
ENST00000540353.1:n.3182C=
ENST00000625889.2:c.793C=	ENSP00000486846.1:p.Gln265=
ENST00000629016.2:c.*396C=	ENSP00000486804.1:n.*396C=
NM_000431.3:c.949C=	NP_000422.1:p.Gln317=
NM_001114185.2:c.949C=	NP_001107657.1:p.Gln317=
NM_001301182.1:c.793C=	NP_001288111.1:p.Gln265=
XM_011538372.1:c.949C=	XP_011536674.1:p.Gln317=
XM_017019313.2:c.793C=	XP_016874802.1:p.Gln265=
XM_017019314.1:c.949C=	XP_016874803.1:p.Gln317=
NM_000431.4:c.949C= MANE Select	NP_000422.1:p.Gln317=
NM_001114185.3:c.949C=	NP_001107657.1:p.Gln317=
NM_001301182.2:c.793C=	NP_001288111.1:p.Gln265=