Canonical Allele Identifier: CA2062444346

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591262C= , CM000674.2:g.109591262C=	GRCh38
NC_000012.11:g.110029067C= , CM000674.1:g.110029067C=	GRCh37
NC_000012.10:g.108513450C=	NCBI36
NG_007702.1:g.22568C= , LRG_156:g.22568C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-54C=	ENSP00000439134.1:n.-54C=
ENST00000546277.6:c.790C=	ENSP00000438153.2:p.Leu264=
ENST00000636529.2:n.429C=
ENST00000697195.1:c.*554C=	ENSP00000513181.1:n.*554C=
ENST00000697196.1:c.878C=	ENSP00000513182.1:p.Pro293=
ENST00000697197.1:n.2819C=
ENST00000228510.8:c.790C= MANE Select	ENSP00000228510.3:p.Leu264=
ENST00000636529.1:c.415C=
ENST00000636996.1:c.638C=
ENST00000228510.7:c.790C=	ENSP00000228510.3:p.Leu264=
ENST00000392727.7:c.634C=	ENSP00000376487.3:p.Leu212=
ENST00000447878.6:c.*237C=	ENSP00000415555.2:n.*237C=
ENST00000537237.5:c.*463C=	ENSP00000445382.1:n.*463C=
ENST00000539575.4:c.790C=	ENSP00000443551.2:p.Leu264=
ENST00000539696.5:c.-54C=	ENSP00000439134.1:n.-54C=
ENST00000540353.1:n.3023C=
ENST00000625889.2:c.634C=	ENSP00000486846.1:p.Leu212=
ENST00000629016.2:c.*237C=	ENSP00000486804.1:n.*237C=
NM_000431.3:c.790C=	NP_000422.1:p.Leu264=
NM_001114185.2:c.790C=	NP_001107657.1:p.Leu264=
NM_001301182.1:c.634C=	NP_001288111.1:p.Leu212=
XM_011538372.1:c.790C=	XP_011536674.1:p.Leu264=
XM_017019313.2:c.634C=	XP_016874802.1:p.Leu212=
XM_017019314.1:c.790C=	XP_016874803.1:p.Leu264=
XM_024448982.1:c.790C=	XP_024304750.1:p.Leu264=
NM_000431.4:c.790C= MANE Select	NP_000422.1:p.Leu264=
NM_001114185.3:c.790C=	NP_001107657.1:p.Leu264=
NM_001301182.2:c.634C=	NP_001288111.1:p.Leu212=