Canonical Allele Identifier: CA2062438066

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586092C= , CM000674.2:g.109586092C=	GRCh38
NC_000012.11:g.110023897C= , CM000674.1:g.110023897C=	GRCh37
NC_000012.10:g.108508280C=	NCBI36
NG_007702.1:g.17398C= , LRG_156:g.17398C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4754C=	ENSP00000439134.1:n.-91-4754C=
ENST00000546277.6:c.598C=	ENSP00000438153.2:p.Pro200=
ENST00000636529.2:n.149C=
ENST00000697195.1:c.*362C=	ENSP00000513181.1:n.*362C=
ENST00000697196.1:c.598C=	ENSP00000513182.1:p.Pro200=
ENST00000228510.8:c.598C= MANE Select	ENSP00000228510.3:p.Pro200=
ENST00000636529.1:c.135C=
ENST00000636996.1:c.446C=
ENST00000228510.7:c.598C=	ENSP00000228510.3:p.Pro200=
ENST00000392727.7:c.442C=	ENSP00000376487.3:p.Pro148=
ENST00000447878.6:c.*45C=	ENSP00000415555.2:n.*45C=
ENST00000535044.1:n.542C=
ENST00000537237.5:c.*362C=	ENSP00000445382.1:n.*362C=
ENST00000539575.4:c.598C=	ENSP00000443551.2:p.Pro200=
ENST00000539696.5:c.-91-4754C=	ENSP00000439134.1:n.-91-4754C=
ENST00000545516.1:n.143C=
ENST00000545774.5:c.*45C=	ENSP00000443978.1:n.*45C=
ENST00000546277.5:c.598C=	ENSP00000438153.1:p.Pro200=
ENST00000625889.2:c.442C=	ENSP00000486846.1:p.Pro148=
ENST00000629016.2:c.*45C=	ENSP00000486804.1:n.*45C=
NM_000431.3:c.598C=	NP_000422.1:p.Pro200=
NM_001114185.2:c.598C=	NP_001107657.1:p.Pro200=
NM_001301182.1:c.442C=	NP_001288111.1:p.Pro148=
XM_011538372.1:c.598C=	XP_011536674.1:p.Pro200=
XM_017019313.2:c.442C=	XP_016874802.1:p.Pro148=
XM_017019314.1:c.598C=	XP_016874803.1:p.Pro200=
XM_024448982.1:c.598C=	XP_024304750.1:p.Pro200=
NM_000431.4:c.598C= MANE Select	NP_000422.1:p.Pro200=
NM_001114185.3:c.598C=	NP_001107657.1:p.Pro200=
NM_001301182.2:c.442C=	NP_001288111.1:p.Pro148=