Canonical Allele Identifier: CA2062432139

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109581529A= , CM000674.2:g.109581529A=	GRCh38
NC_000012.11:g.110019334A= , CM000674.1:g.110019334A=	GRCh37
NC_000012.10:g.108503717A=	NCBI36
NG_007702.1:g.12835A= , LRG_156:g.12835A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-92+7656A=	ENSP00000439134.1:n.-92+7656A=
ENST00000546277.6:c.506A=	ENSP00000438153.2:p.Lys169=
ENST00000636529.2:n.79-4493A=
ENST00000697195.1:c.*270A=	ENSP00000513181.1:n.*270A=
ENST00000697196.1:c.506A=	ENSP00000513182.1:p.Lys169=
ENST00000228510.8:c.506A= MANE Select	ENSP00000228510.3:p.Lys169=
ENST00000636529.1:c.65-4493A=
ENST00000636996.1:c.354A=
ENST00000228510.7:c.506A=	ENSP00000228510.3:p.Lys169=
ENST00000392727.7:c.371+1583A=	ENSP00000376487.3:n.371+1583A=
ENST00000447878.6:c.227-4493A=	ENSP00000415555.2:n.227-4493A=
ENST00000535044.1:n.472-4493A=
ENST00000537237.5:c.*270A=	ENSP00000445382.1:n.*270A=
ENST00000539335.5:c.506A=	ENSP00000440379.1:p.Lys169=
ENST00000539575.4:c.506A=	ENSP00000443551.2:p.Lys169=
ENST00000539696.5:c.-92+7656A=	ENSP00000439134.1:n.-92+7656A=
ENST00000545516.1:n.51A=
ENST00000545774.5:c.227-4493A=	ENSP00000443978.1:n.227-4493A=
ENST00000546277.5:c.506A=	ENSP00000438153.1:p.Lys169=
ENST00000625889.2:c.371+1583A=	ENSP00000486846.1:n.371+1583A=
ENST00000629016.2:c.227-4493A=	ENSP00000486804.1:n.227-4493A=
NM_000431.3:c.506A=	NP_000422.1:p.Lys169=
NM_001114185.2:c.506A=	NP_001107657.1:p.Lys169=
NM_001301182.1:c.371+1583A=	NP_001288111.1:n.371+1583A=
XM_011538372.1:c.506A=	XP_011536674.1:p.Lys169=
XM_017019313.2:c.371+1583A=	XP_016874802.1:n.371+1583A=
XM_017019314.1:c.506A=	XP_016874803.1:p.Lys169=
XM_024448982.1:c.506A=	XP_024304750.1:p.Lys169=
NM_000431.4:c.506A= MANE Select	NP_000422.1:p.Lys169=
NM_001114185.3:c.506A=	NP_001107657.1:p.Lys169=
NM_001301182.2:c.371+1583A=	NP_001288111.1:n.371+1583A=