Canonical Allele Identifier: CA2062443469

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590770G= , CM000674.2:g.109590770G=	GRCh38
NC_000012.11:g.110028575G= , CM000674.1:g.110028575G=	GRCh37
NC_000012.10:g.108512958G=	NCBI36
NG_007702.1:g.22076G= , LRG_156:g.22076G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-76G=	ENSP00000439134.1:n.-91-76G=
ENST00000546277.6:c.678-1G=	ENSP00000438153.2:n.678-1G=
ENST00000636529.2:n.316G=
ENST00000697195.1:c.*442-1G=	ENSP00000513181.1:n.*442-1G=
ENST00000697196.1:c.765G=	ENSP00000513182.1:p.Gln255=
ENST00000697197.1:n.2327G=
ENST00000228510.8:c.678-1G= MANE Select	ENSP00000228510.3:n.678-1G=
ENST00000636529.1:c.302G=
ENST00000636996.1:c.526-1G=
ENST00000228510.7:c.678-1G=	ENSP00000228510.3:n.678-1G=
ENST00000392727.7:c.522-1G=	ENSP00000376487.3:n.522-1G=
ENST00000447878.6:c.*125-1G=	ENSP00000415555.2:n.*125-1G=
ENST00000537237.5:c.*442-471G=	ENSP00000445382.1:n.*442-471G=
ENST00000539575.4:c.678-1G=	ENSP00000443551.2:n.678-1G=
ENST00000539696.5:c.-91-76G=	ENSP00000439134.1:n.-91-76G=
ENST00000540353.1:n.2910G=
ENST00000625889.2:c.522-1G=	ENSP00000486846.1:n.522-1G=
ENST00000629016.2:c.*125-1G=	ENSP00000486804.1:n.*125-1G=
NM_000431.3:c.678-1G=	NP_000422.1:n.678-1G=
NM_001114185.2:c.678-1G=	NP_001107657.1:n.678-1G=
NM_001301182.1:c.522-1G=	NP_001288111.1:n.522-1G=
XM_011538372.1:c.678-1G=	XP_011536674.1:n.678-1G=
XM_017019313.2:c.522-1G=	XP_016874802.1:n.522-1G=
XM_017019314.1:c.678-1G=	XP_016874803.1:n.678-1G=
XM_024448982.1:c.678-1G=	XP_024304750.1:n.678-1G=
NM_000431.4:c.678-1G= MANE Select	NP_000422.1:n.678-1G=
NM_001114185.3:c.678-1G=	NP_001107657.1:n.678-1G=
NM_001301182.2:c.522-1G=	NP_001288111.1:n.522-1G=