Canonical Allele Identifier: CA2062443695

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590832G= , CM000674.2:g.109590832G=	GRCh38
NC_000012.11:g.110028637G= , CM000674.1:g.110028637G=	GRCh37
NC_000012.10:g.108513020G=	NCBI36
NG_007702.1:g.22138G= , LRG_156:g.22138G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-14G=	ENSP00000439134.1:n.-91-14G=
ENST00000546277.6:c.739G=	ENSP00000438153.2:p.Val247=
ENST00000636529.2:n.378G=
ENST00000697195.1:c.*503G=	ENSP00000513181.1:n.*503G=
ENST00000697196.1:c.827G=	ENSP00000513182.1:p.Cys276=
ENST00000697197.1:n.2389G=
ENST00000228510.8:c.739G= MANE Select	ENSP00000228510.3:p.Val247=
ENST00000636529.1:c.364G=
ENST00000636996.1:c.587G=
ENST00000228510.7:c.739G=	ENSP00000228510.3:p.Val247=
ENST00000392727.7:c.583G=	ENSP00000376487.3:p.Val195=
ENST00000447878.6:c.*186G=	ENSP00000415555.2:n.*186G=
ENST00000537237.5:c.*442-409G=	ENSP00000445382.1:n.*442-409G=
ENST00000539575.4:c.739G=	ENSP00000443551.2:p.Val247=
ENST00000539696.5:c.-91-14G=	ENSP00000439134.1:n.-91-14G=
ENST00000540353.1:n.2972G=
ENST00000625889.2:c.583G=	ENSP00000486846.1:p.Val195=
ENST00000629016.2:c.*186G=	ENSP00000486804.1:n.*186G=
NM_000431.3:c.739G=	NP_000422.1:p.Val247=
NM_001114185.2:c.739G=	NP_001107657.1:p.Val247=
NM_001301182.1:c.583G=	NP_001288111.1:p.Val195=
XM_011538372.1:c.739G=	XP_011536674.1:p.Val247=
XM_017019313.2:c.583G=	XP_016874802.1:p.Val195=
XM_017019314.1:c.739G=	XP_016874803.1:p.Val247=
XM_024448982.1:c.739G=	XP_024304750.1:p.Val247=
NM_000431.4:c.739G= MANE Select	NP_000422.1:p.Val247=
NM_001114185.3:c.739G=	NP_001107657.1:p.Val247=
NM_001301182.2:c.583G=	NP_001288111.1:p.Val195=