Canonical Allele Identifier: CA2062444444

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591297T= , CM000674.2:g.109591297T=	GRCh38
NC_000012.11:g.110029102T= , CM000674.1:g.110029102T=	GRCh37
NC_000012.10:g.108513485T=	NCBI36
NG_007702.1:g.22603T= , LRG_156:g.22603T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-19T=	ENSP00000439134.1:n.-19T=
ENST00000546277.6:c.825T=	ENSP00000438153.2:p.Cys275=
ENST00000636529.2:n.464T=
ENST00000697195.1:c.*589T=	ENSP00000513181.1:n.*589T=
ENST00000697196.1:c.913T=	ENSP00000513182.1:p.Ter305=
ENST00000697197.1:n.2854T=
ENST00000228510.8:c.825T= MANE Select	ENSP00000228510.3:p.Cys275=
ENST00000636529.1:c.450T=
ENST00000636996.1:c.673T=
ENST00000228510.7:c.825T=	ENSP00000228510.3:p.Cys275=
ENST00000392727.7:c.669T=	ENSP00000376487.3:p.Cys223=
ENST00000447878.6:c.*272T=	ENSP00000415555.2:n.*272T=
ENST00000537237.5:c.*498T=	ENSP00000445382.1:n.*498T=
ENST00000539575.4:c.825T=	ENSP00000443551.2:p.Cys275=
ENST00000539696.5:c.-19T=	ENSP00000439134.1:n.-19T=
ENST00000540353.1:n.3058T=
ENST00000625889.2:c.669T=	ENSP00000486846.1:p.Cys223=
ENST00000629016.2:c.*272T=	ENSP00000486804.1:n.*272T=
NM_000431.3:c.825T=	NP_000422.1:p.Cys275=
NM_001114185.2:c.825T=	NP_001107657.1:p.Cys275=
NM_001301182.1:c.669T=	NP_001288111.1:p.Cys223=
XM_011538372.1:c.825T=	XP_011536674.1:p.Cys275=
XM_017019313.2:c.669T=	XP_016874802.1:p.Cys223=
XM_017019314.1:c.825T=	XP_016874803.1:p.Cys275=
XM_024448982.1:c.825T=	XP_024304750.1:p.Cys275=
NM_000431.4:c.825T= MANE Select	NP_000422.1:p.Cys275=
NM_001114185.3:c.825T=	NP_001107657.1:p.Cys275=
NM_001301182.2:c.669T=	NP_001288111.1:p.Cys223=