Canonical Allele Identifier: CA2062443460

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590768C= , CM000674.2:g.109590768C=	GRCh38
NC_000012.11:g.110028573C= , CM000674.1:g.110028573C=	GRCh37
NC_000012.10:g.108512956C=	NCBI36
NG_007702.1:g.22074C= , LRG_156:g.22074C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-78C=	ENSP00000439134.1:n.-91-78C=
ENST00000546277.6:c.678-3C=	ENSP00000438153.2:n.678-3C=
ENST00000636529.2:n.314C=
ENST00000697195.1:c.*442-3C=	ENSP00000513181.1:n.*442-3C=
ENST00000697196.1:c.763C=	ENSP00000513182.1:p.Gln255=
ENST00000697197.1:n.2325C=
ENST00000228510.8:c.678-3C= MANE Select	ENSP00000228510.3:n.678-3C=
ENST00000636529.1:c.300C=
ENST00000636996.1:c.526-3C=
ENST00000228510.7:c.678-3C=	ENSP00000228510.3:n.678-3C=
ENST00000392727.7:c.522-3C=	ENSP00000376487.3:n.522-3C=
ENST00000447878.6:c.*125-3C=	ENSP00000415555.2:n.*125-3C=
ENST00000537237.5:c.*442-473C=	ENSP00000445382.1:n.*442-473C=
ENST00000539575.4:c.678-3C=	ENSP00000443551.2:n.678-3C=
ENST00000539696.5:c.-91-78C=	ENSP00000439134.1:n.-91-78C=
ENST00000540353.1:n.2908C=
ENST00000625889.2:c.522-3C=	ENSP00000486846.1:n.522-3C=
ENST00000629016.2:c.*125-3C=	ENSP00000486804.1:n.*125-3C=
NM_000431.3:c.678-3C=	NP_000422.1:n.678-3C=
NM_001114185.2:c.678-3C=	NP_001107657.1:n.678-3C=
NM_001301182.1:c.522-3C=	NP_001288111.1:n.522-3C=
XM_011538372.1:c.678-3C=	XP_011536674.1:n.678-3C=
XM_017019313.2:c.522-3C=	XP_016874802.1:n.522-3C=
XM_017019314.1:c.678-3C=	XP_016874803.1:n.678-3C=
XM_024448982.1:c.678-3C=	XP_024304750.1:n.678-3C=
NM_000431.4:c.678-3C= MANE Select	NP_000422.1:n.678-3C=
NM_001114185.3:c.678-3C=	NP_001107657.1:n.678-3C=
NM_001301182.2:c.522-3C=	NP_001288111.1:n.522-3C=