Canonical Allele Identifier: CA2062473280

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596832C= , CM000674.2:g.109596832C=	GRCh38
NC_000012.11:g.110034637C= , CM000674.1:g.110034637C=	GRCh37
NC_000012.10:g.108519020C=	NCBI36
NG_007702.1:g.28138C= , LRG_156:g.28138C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.*255C=	ENSP00000439134.1:n.*255C=
ENST00000546277.6:c.*255C=	ENSP00000438153.2:n.*255C=
ENST00000636529.2:n.1085C=
ENST00000697195.1:c.*1210C=	ENSP00000513181.1:n.*1210C=
ENST00000697196.1:c.*619C=	ENSP00000513182.1:n.*619C=
ENST00000697197.1:n.3475C=
ENST00000697198.1:n.1830C=
ENST00000228510.8:c.*255C= MANE Select	ENSP00000228510.3:n.*255C=
ENST00000636529.1:c.1071C=
ENST00000636996.1:c.1294C=
ENST00000228510.7:c.*255C=	ENSP00000228510.3:n.*255C=
ENST00000392727.7:c.*255C=	ENSP00000376487.3:n.*255C=
ENST00000447878.6:c.*893C=	ENSP00000415555.2:n.*893C=
ENST00000539575.4:c.*255C=	ENSP00000443551.2:n.*255C=
ENST00000540353.1:n.3679C=
ENST00000625889.2:c.*255C=	ENSP00000486846.1:n.*255C=
ENST00000629016.2:c.*893C=	ENSP00000486804.1:n.*893C=
NM_000431.3:c.*255C=	NP_000422.1:n.*255C=
NM_001114185.2:c.*255C=	NP_001107657.1:n.*255C=
NM_001301182.1:c.*255C=	NP_001288111.1:n.*255C=
XM_011538372.1:c.*255C=	XP_011536674.1:n.*255C=
XM_017019313.2:c.*255C=	XP_016874802.1:n.*255C=
XM_017019314.1:c.*255C=	XP_016874803.1:n.*255C=
NM_000431.4:c.*255C= MANE Select	NP_000422.1:n.*255C=
NM_001114185.3:c.*255C=	NP_001107657.1:n.*255C=
NM_001301182.2:c.*255C=	NP_001288111.1:n.*255C=