Canonical Allele Identifier: CA2062437955

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586038T= , CM000674.2:g.109586038T=	GRCh38
NC_000012.11:g.110023843T= , CM000674.1:g.110023843T=	GRCh37
NC_000012.10:g.108508226T=	NCBI36
NG_007702.1:g.17344T= , LRG_156:g.17344T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4808T=	ENSP00000439134.1:n.-91-4808T=
ENST00000546277.6:c.544T=	ENSP00000438153.2:p.Leu182=
ENST00000636529.2:n.95T=
ENST00000697195.1:c.*308T=	ENSP00000513181.1:n.*308T=
ENST00000697196.1:c.544T=	ENSP00000513182.1:p.Leu182=
ENST00000228510.8:c.544T= MANE Select	ENSP00000228510.3:p.Leu182=
ENST00000636529.1:c.81T=
ENST00000636996.1:c.392T=
ENST00000228510.7:c.544T=	ENSP00000228510.3:p.Leu182=
ENST00000392727.7:c.388T=	ENSP00000376487.3:p.Leu130=
ENST00000447878.6:c.243T=	ENSP00000415555.2:p.Ile81=
ENST00000535044.1:n.488T=
ENST00000537237.5:c.*308T=	ENSP00000445382.1:n.*308T=
ENST00000539575.4:c.544T=	ENSP00000443551.2:p.Leu182=
ENST00000539696.5:c.-91-4808T=	ENSP00000439134.1:n.-91-4808T=
ENST00000545516.1:n.89T=
ENST00000545774.5:c.243T=	ENSP00000443978.1:p.Ile81=
ENST00000546277.5:c.544T=	ENSP00000438153.1:p.Leu182=
ENST00000625889.2:c.388T=	ENSP00000486846.1:p.Leu130=
ENST00000629016.2:c.243T=	ENSP00000486804.1:p.Ile81=
NM_000431.3:c.544T=	NP_000422.1:p.Leu182=
NM_001114185.2:c.544T=	NP_001107657.1:p.Leu182=
NM_001301182.1:c.388T=	NP_001288111.1:p.Leu130=
XM_011538372.1:c.544T=	XP_011536674.1:p.Leu182=
XM_017019313.2:c.388T=	XP_016874802.1:p.Leu130=
XM_017019314.1:c.544T=	XP_016874803.1:p.Leu182=
XM_024448982.1:c.544T=	XP_024304750.1:p.Leu182=
NM_000431.4:c.544T= MANE Select	NP_000422.1:p.Leu182=
NM_001114185.3:c.544T=	NP_001107657.1:p.Leu182=
NM_001301182.2:c.388T=	NP_001288111.1:p.Leu130=