Canonical Allele Identifier: CA386651518

Gene: MVK

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596575T>A , CM000674.2:g.109596575T>A	GRCh38
NC_000012.11:g.110034380T>A , CM000674.1:g.110034380T>A	GRCh37
NC_000012.10:g.108518763T>A	NCBI36
NG_007702.1:g.27881T>A , LRG_156:g.27881T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000431.4:c.1189T>A MANE Select	NP_000422.1:p.Ter397Arg
ENST00000228510.8:c.1189T>A MANE Select	ENSP00000228510.3:p.Ter397Arg
NM_000431.3:c.1189T>A	NP_000422.1:p.Ter397Arg
NM_001114185.2:c.1189T>A	NP_001107657.1:p.Ter397Arg
NM_001114185.3:c.1189T>A	NP_001107657.1:p.Ter397Arg
NM_001301182.1:c.1033T>A	NP_001288111.1:p.Ter345Arg
NM_001301182.2:c.1033T>A	NP_001288111.1:p.Ter345Arg
ENST00000228510.7:c.1189T>A	ENSP00000228510.3:p.Ter397Arg
ENST00000392727.7:c.1033T>A	ENSP00000376487.3:p.Ter345Arg
ENST00000447878.6:c.*636T>A	ENSP00000415555.2:n.*636T>A
ENST00000537237.5:c.*862T>A	ENSP00000445382.1:n.*862T>A
ENST00000539575.4:c.1189T>A	ENSP00000443551.2:p.Ter397Arg
ENST00000539696.5:c.346T>A	ENSP00000439134.1:p.Ter116Arg
ENST00000539696.6:c.346T>A	ENSP00000439134.1:p.Ter116Arg
ENST00000540353.1:n.3422T>A
ENST00000546277.6:c.1189T>A	ENSP00000438153.2:p.Ter397Arg
ENST00000625889.2:c.1033T>A	ENSP00000486846.1:p.Ter345Arg
ENST00000629016.2:c.*636T>A	ENSP00000486804.1:n.*636T>A
ENST00000636529.1:c.814T>A
ENST00000636529.2:n.828T>A
ENST00000636996.1:c.1037T>A
ENST00000697195.1:c.*953T>A	ENSP00000513181.1:n.*953T>A
ENST00000697196.1:c.*362T>A	ENSP00000513182.1:n.*362T>A
ENST00000697197.1:n.3218T>A
ENST00000697198.1:n.1573T>A
XM_011538372.1:c.1189T>A	XP_011536674.1:p.Ter397Arg
XM_017019313.2:c.1033T>A	XP_016874802.1:p.Ter345Arg
XM_017019314.1:c.1189T>A	XP_016874803.1:p.Ter397Arg