Canonical Allele Identifier: CA2062443738

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590853C= , CM000674.2:g.109590853C=	GRCh38
NC_000012.11:g.110028658C= , CM000674.1:g.110028658C=	GRCh37
NC_000012.10:g.108513041C=	NCBI36
NG_007702.1:g.22159C= , LRG_156:g.22159C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-84C=	ENSP00000439134.1:n.-84C=
ENST00000546277.6:c.760C=	ENSP00000438153.2:p.Leu254=
ENST00000636529.2:n.399C=
ENST00000697195.1:c.*524C=	ENSP00000513181.1:n.*524C=
ENST00000697196.1:c.848C=	ENSP00000513182.1:p.Ala283=
ENST00000697197.1:n.2410C=
ENST00000228510.8:c.760C= MANE Select	ENSP00000228510.3:p.Leu254=
ENST00000636529.1:c.385C=
ENST00000636996.1:c.608C=
ENST00000228510.7:c.760C=	ENSP00000228510.3:p.Leu254=
ENST00000392727.7:c.604C=	ENSP00000376487.3:p.Leu202=
ENST00000447878.6:c.*207C=	ENSP00000415555.2:n.*207C=
ENST00000537237.5:c.*442-388C=	ENSP00000445382.1:n.*442-388C=
ENST00000539575.4:c.760C=	ENSP00000443551.2:p.Leu254=
ENST00000539696.5:c.-84C=	ENSP00000439134.1:n.-84C=
ENST00000540353.1:n.2993C=
ENST00000625889.2:c.604C=	ENSP00000486846.1:p.Leu202=
ENST00000629016.2:c.*207C=	ENSP00000486804.1:n.*207C=
NM_000431.3:c.760C=	NP_000422.1:p.Leu254=
NM_001114185.2:c.760C=	NP_001107657.1:p.Leu254=
NM_001301182.1:c.604C=	NP_001288111.1:p.Leu202=
XM_011538372.1:c.760C=	XP_011536674.1:p.Leu254=
XM_017019313.2:c.604C=	XP_016874802.1:p.Leu202=
XM_017019314.1:c.760C=	XP_016874803.1:p.Leu254=
XM_024448982.1:c.760C=	XP_024304750.1:p.Leu254=
NM_000431.4:c.760C= MANE Select	NP_000422.1:p.Leu254=
NM_001114185.3:c.760C=	NP_001107657.1:p.Leu254=
NM_001301182.2:c.604C=	NP_001288111.1:p.Leu202=