Canonical Allele Identifier: CA2062473277

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596818C= , CM000674.2:g.109596818C=	GRCh38
NC_000012.11:g.110034623C= , CM000674.1:g.110034623C=	GRCh37
NC_000012.10:g.108519006C=	NCBI36
NG_007702.1:g.28124C= , LRG_156:g.28124C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*241C=	ENSP00000439134.1:n.*241C=
ENST00000546277.6:c.*241C=	ENSP00000438153.2:n.*241C=
ENST00000636529.2:n.1071C=
ENST00000697195.1:c.*1196C=	ENSP00000513181.1:n.*1196C=
ENST00000697196.1:c.*605C=	ENSP00000513182.1:n.*605C=
ENST00000697197.1:n.3461C=
ENST00000697198.1:n.1816C=
ENST00000228510.8:c.*241C= MANE Select	ENSP00000228510.3:n.*241C=
ENST00000636529.1:c.1057C=
ENST00000636996.1:c.1280C=
ENST00000228510.7:c.*241C=	ENSP00000228510.3:n.*241C=
ENST00000392727.7:c.*241C=	ENSP00000376487.3:n.*241C=
ENST00000447878.6:c.*879C=	ENSP00000415555.2:n.*879C=
ENST00000539575.4:c.*241C=	ENSP00000443551.2:n.*241C=
ENST00000540353.1:n.3665C=
ENST00000625889.2:c.*241C=	ENSP00000486846.1:n.*241C=
ENST00000629016.2:c.*879C=	ENSP00000486804.1:n.*879C=
NM_000431.3:c.*241C=	NP_000422.1:n.*241C=
NM_001114185.2:c.*241C=	NP_001107657.1:n.*241C=
NM_001301182.1:c.*241C=	NP_001288111.1:n.*241C=
XM_011538372.1:c.*241C=	XP_011536674.1:n.*241C=
XM_017019313.2:c.*241C=	XP_016874802.1:n.*241C=
XM_017019314.1:c.*241C=	XP_016874803.1:n.*241C=
NM_000431.4:c.*241C= MANE Select	NP_000422.1:n.*241C=
NM_001114185.3:c.*241C=	NP_001107657.1:n.*241C=
NM_001301182.2:c.*241C=	NP_001288111.1:n.*241C=