Canonical Allele Identifier: CA2062444303

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591257C= , CM000674.2:g.109591257C=	GRCh38
NC_000012.11:g.110029062C= , CM000674.1:g.110029062C=	GRCh37
NC_000012.10:g.108513445C=	NCBI36
NG_007702.1:g.22563C= , LRG_156:g.22563C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-59C=	ENSP00000439134.1:n.-59C=
ENST00000546277.6:c.785C=	ENSP00000438153.2:p.Ala262=
ENST00000636529.2:n.424C=
ENST00000697195.1:c.*549C=	ENSP00000513181.1:n.*549C=
ENST00000697196.1:c.873C=	ENSP00000513182.1:p.Gly291=
ENST00000697197.1:n.2814C=
ENST00000228510.8:c.785C= MANE Select	ENSP00000228510.3:p.Ala262=
ENST00000636529.1:c.410C=
ENST00000636996.1:c.633C=
ENST00000228510.7:c.785C=	ENSP00000228510.3:p.Ala262=
ENST00000392727.7:c.629C=	ENSP00000376487.3:p.Ala210=
ENST00000447878.6:c.*232C=	ENSP00000415555.2:n.*232C=
ENST00000537237.5:c.*458C=	ENSP00000445382.1:n.*458C=
ENST00000539575.4:c.785C=	ENSP00000443551.2:p.Ala262=
ENST00000539696.5:c.-59C=	ENSP00000439134.1:n.-59C=
ENST00000540353.1:n.3018C=
ENST00000625889.2:c.629C=	ENSP00000486846.1:p.Ala210=
ENST00000629016.2:c.*232C=	ENSP00000486804.1:n.*232C=
NM_000431.3:c.785C=	NP_000422.1:p.Ala262=
NM_001114185.2:c.785C=	NP_001107657.1:p.Ala262=
NM_001301182.1:c.629C=	NP_001288111.1:p.Ala210=
XM_011538372.1:c.785C=	XP_011536674.1:p.Ala262=
XM_017019313.2:c.629C=	XP_016874802.1:p.Ala210=
XM_017019314.1:c.785C=	XP_016874803.1:p.Ala262=
XM_024448982.1:c.785C=	XP_024304750.1:p.Ala262=
NM_000431.4:c.785C= MANE Select	NP_000422.1:p.Ala262=
NM_001114185.3:c.785C=	NP_001107657.1:p.Ala262=
NM_001301182.2:c.629C=	NP_001288111.1:p.Ala210=