Canonical Allele Identifier: CA2062444365

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591266T= , CM000674.2:g.109591266T=	GRCh38
NC_000012.11:g.110029071T= , CM000674.1:g.110029071T=	GRCh37
NC_000012.10:g.108513454T=	NCBI36
NG_007702.1:g.22572T= , LRG_156:g.22572T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.-50T=	ENSP00000439134.1:n.-50T=
ENST00000546277.6:c.794T=	ENSP00000438153.2:p.Leu265=
ENST00000636529.2:n.433T=
ENST00000697195.1:c.*558T=	ENSP00000513181.1:n.*558T=
ENST00000697196.1:c.882T=	ENSP00000513182.1:p.Pro294=
ENST00000697197.1:n.2823T=
ENST00000228510.8:c.794T= MANE Select	ENSP00000228510.3:p.Leu265=
ENST00000636529.1:c.419T=
ENST00000636996.1:c.642T=
ENST00000228510.7:c.794T=	ENSP00000228510.3:p.Leu265=
ENST00000392727.7:c.638T=	ENSP00000376487.3:p.Leu213=
ENST00000447878.6:c.*241T=	ENSP00000415555.2:n.*241T=
ENST00000537237.5:c.*467T=	ENSP00000445382.1:n.*467T=
ENST00000539575.4:c.794T=	ENSP00000443551.2:p.Leu265=
ENST00000539696.5:c.-50T=	ENSP00000439134.1:n.-50T=
ENST00000540353.1:n.3027T=
ENST00000625889.2:c.638T=	ENSP00000486846.1:p.Leu213=
ENST00000629016.2:c.*241T=	ENSP00000486804.1:n.*241T=
NM_000431.3:c.794T=	NP_000422.1:p.Leu265=
NM_001114185.2:c.794T=	NP_001107657.1:p.Leu265=
NM_001301182.1:c.638T=	NP_001288111.1:p.Leu213=
XM_011538372.1:c.794T=	XP_011536674.1:p.Leu265=
XM_017019313.2:c.638T=	XP_016874802.1:p.Leu213=
XM_017019314.1:c.794T=	XP_016874803.1:p.Leu265=
XM_024448982.1:c.794T=	XP_024304750.1:p.Leu265=
NM_000431.4:c.794T= MANE Select	NP_000422.1:p.Leu265=
NM_001114185.3:c.794T=	NP_001107657.1:p.Leu265=
NM_001301182.2:c.638T=	NP_001288111.1:p.Leu213=