Canonical Allele Identifier: CA2062472581

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595169C= , CM000674.2:g.109595169C=	GRCh38
NC_000012.11:g.110032974C= , CM000674.1:g.110032974C=	GRCh37
NC_000012.10:g.108517357C=	NCBI36
NG_007702.1:g.26475C= , LRG_156:g.26475C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.184C=	ENSP00000439134.1:p.Leu62=
ENST00000546277.6:c.1027C=	ENSP00000438153.2:p.Leu343=
ENST00000636529.2:n.666C=
ENST00000697195.1:c.*791C=	ENSP00000513181.1:n.*791C=
ENST00000697196.1:c.*200C=	ENSP00000513182.1:n.*200C=
ENST00000697197.1:n.3056C=
ENST00000697198.1:n.1411C=
ENST00000228510.8:c.1027C= MANE Select	ENSP00000228510.3:p.Leu343=
ENST00000636529.1:c.652C=
ENST00000636996.1:c.875C=
ENST00000228510.7:c.1027C=	ENSP00000228510.3:p.Leu343=
ENST00000392727.7:c.871C=	ENSP00000376487.3:p.Leu291=
ENST00000447878.6:c.*474C=	ENSP00000415555.2:n.*474C=
ENST00000537237.5:c.*700C=	ENSP00000445382.1:n.*700C=
ENST00000539575.4:c.1027C=	ENSP00000443551.2:p.Leu343=
ENST00000539696.5:c.184C=	ENSP00000439134.1:p.Leu62=
ENST00000540353.1:n.3260C=
ENST00000625889.2:c.871C=	ENSP00000486846.1:p.Leu291=
ENST00000629016.2:c.*474C=	ENSP00000486804.1:n.*474C=
NM_000431.3:c.1027C=	NP_000422.1:p.Leu343=
NM_001114185.2:c.1027C=	NP_001107657.1:p.Leu343=
NM_001301182.1:c.871C=	NP_001288111.1:p.Leu291=
XM_011538372.1:c.1027C=	XP_011536674.1:p.Leu343=
XM_017019313.2:c.871C=	XP_016874802.1:p.Leu291=
XM_017019314.1:c.1027C=	XP_016874803.1:p.Leu343=
NM_000431.4:c.1027C= MANE Select	NP_000422.1:p.Leu343=
NM_001114185.3:c.1027C=	NP_001107657.1:p.Leu343=
NM_001301182.2:c.871C=	NP_001288111.1:p.Leu291=