Canonical Allele Identifier: CA2062444494

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591309G= , CM000674.2:g.109591309G=	GRCh38
NC_000012.11:g.110029114G= , CM000674.1:g.110029114G=	GRCh37
NC_000012.10:g.108513497G=	NCBI36
NG_007702.1:g.22615G= , LRG_156:g.22615G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-7G=	ENSP00000439134.1:n.-7G=
ENST00000546277.6:c.837G=	ENSP00000438153.2:p.Leu279=
ENST00000636529.2:n.476G=
ENST00000697195.1:c.*601G=	ENSP00000513181.1:n.*601G=
ENST00000697196.1:c.*10G=	ENSP00000513182.1:n.*10G=
ENST00000697197.1:n.2866G=
ENST00000228510.8:c.837G= MANE Select	ENSP00000228510.3:p.Leu279=
ENST00000636529.1:c.462G=
ENST00000636996.1:c.685G=
ENST00000228510.7:c.837G=	ENSP00000228510.3:p.Leu279=
ENST00000392727.7:c.681G=	ENSP00000376487.3:p.Leu227=
ENST00000447878.6:c.*284G=	ENSP00000415555.2:n.*284G=
ENST00000537237.5:c.*510G=	ENSP00000445382.1:n.*510G=
ENST00000539575.4:c.837G=	ENSP00000443551.2:p.Leu279=
ENST00000539696.5:c.-7G=	ENSP00000439134.1:n.-7G=
ENST00000540353.1:n.3070G=
ENST00000625889.2:c.681G=	ENSP00000486846.1:p.Leu227=
ENST00000629016.2:c.*284G=	ENSP00000486804.1:n.*284G=
NM_000431.3:c.837G=	NP_000422.1:p.Leu279=
NM_001114185.2:c.837G=	NP_001107657.1:p.Leu279=
NM_001301182.1:c.681G=	NP_001288111.1:p.Leu227=
XM_011538372.1:c.837G=	XP_011536674.1:p.Leu279=
XM_017019313.2:c.681G=	XP_016874802.1:p.Leu227=
XM_017019314.1:c.837G=	XP_016874803.1:p.Leu279=
XM_024448982.1:c.837G=	XP_024304750.1:p.Leu279=
NM_000431.4:c.837G= MANE Select	NP_000422.1:p.Leu279=
NM_001114185.3:c.837G=	NP_001107657.1:p.Leu279=
NM_001301182.2:c.681G=	NP_001288111.1:p.Leu227=