Canonical Allele Identifier: CA2062443599

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590802A= , CM000674.2:g.109590802A=	GRCh38
NC_000012.11:g.110028607A= , CM000674.1:g.110028607A=	GRCh37
NC_000012.10:g.108512990A=	NCBI36
NG_007702.1:g.22108A= , LRG_156:g.22108A=

Transcript Alleles

HGVS	Amino-acid Change
NM_000431.4:c.709A= MANE Select	NP_000422.1:p.Thr237=
ENST00000228510.8:c.709A= MANE Select	ENSP00000228510.3:p.Thr237=
NM_000431.3:c.709A=	NP_000422.1:p.Thr237=
NM_001114185.2:c.709A=	NP_001107657.1:p.Thr237=
NM_001114185.3:c.709A=	NP_001107657.1:p.Thr237=
NM_001301182.1:c.553A=	NP_001288111.1:p.Thr185=
NM_001301182.2:c.553A=	NP_001288111.1:p.Thr185=
ENST00000228510.7:c.709A=	ENSP00000228510.3:p.Thr237=
ENST00000392727.7:c.553A=	ENSP00000376487.3:p.Thr185=
ENST00000447878.6:c.*156A=	ENSP00000415555.2:n.*156A=
ENST00000537237.5:c.*442-439A=	ENSP00000445382.1:n.*442-439A=
ENST00000539575.4:c.709A=	ENSP00000443551.2:p.Thr237=
ENST00000539696.5:c.-91-44A=	ENSP00000439134.1:n.-91-44A=
ENST00000539696.6:c.-91-44A=	ENSP00000439134.1:n.-91-44A=
ENST00000540353.1:n.2942A=
ENST00000546277.6:c.709A=	ENSP00000438153.2:p.Thr237=
ENST00000625889.2:c.553A=	ENSP00000486846.1:p.Thr185=
ENST00000629016.2:c.*156A=	ENSP00000486804.1:n.*156A=
ENST00000636529.1:c.334A=
ENST00000636529.2:n.348A=
ENST00000636996.1:c.557A=
ENST00000697195.1:c.*473A=	ENSP00000513181.1:n.*473A=
ENST00000697196.1:c.797A=	ENSP00000513182.1:p.His266=
ENST00000697197.1:n.2359A=
XM_011538372.1:c.709A=	XP_011536674.1:p.Thr237=
XM_017019313.2:c.553A=	XP_016874802.1:p.Thr185=
XM_017019314.1:c.709A=	XP_016874803.1:p.Thr237=
XM_024448982.1:c.709A=	XP_024304750.1:p.Thr237=