Canonical Allele Identifier: CA386647489

Gene: MVK

Linked Data

• ClinVar Variation Id: 2111085
• ClinVar RCV Id: RCV003022514
• MyVariant Identifiers: chr12:g.110023848G>A (hg19) ; chr12:g.109586043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586043G>A , CM000674.2:g.109586043G>A	GRCh38
NC_000012.11:g.110023848G>A , CM000674.1:g.110023848G>A	GRCh37
NC_000012.10:g.108508231G>A	NCBI36
NG_007702.1:g.17349G>A , LRG_156:g.17349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4803G>A	ENSP00000439134.1:n.-91-4803G>A
ENST00000546277.6:c.549G>A	ENSP00000438153.2:p.Glu183=
ENST00000636529.2:n.100G>A
ENST00000697195.1:c.*313G>A	ENSP00000513181.1:n.*313G>A
ENST00000697196.1:c.549G>A	ENSP00000513182.1:p.Glu183=
ENST00000228510.8:c.549G>A MANE Select	ENSP00000228510.3:p.Glu183=
ENST00000636529.1:c.86G>A
ENST00000636996.1:c.397G>A
ENST00000228510.7:c.549G>A	ENSP00000228510.3:p.Glu183=
ENST00000392727.7:c.393G>A	ENSP00000376487.3:p.Glu131=
ENST00000447878.6:c.248G>A	ENSP00000415555.2:p.Ser83Asn
ENST00000535044.1:n.493G>A
ENST00000537237.5:c.*313G>A	ENSP00000445382.1:n.*313G>A
ENST00000539575.4:c.549G>A	ENSP00000443551.2:p.Glu183=
ENST00000539696.5:c.-91-4803G>A	ENSP00000439134.1:n.-91-4803G>A
ENST00000545516.1:n.94G>A
ENST00000545774.5:c.248G>A	ENSP00000443978.1:p.Ser83Asn
ENST00000546277.5:c.549G>A	ENSP00000438153.1:p.Glu183=
ENST00000625889.2:c.393G>A	ENSP00000486846.1:p.Glu131=
ENST00000629016.2:c.248G>A	ENSP00000486804.1:p.Ser83Asn
NM_000431.3:c.549G>A	NP_000422.1:p.Glu183=
NM_001114185.2:c.549G>A	NP_001107657.1:p.Glu183=
NM_001301182.1:c.393G>A	NP_001288111.1:p.Glu131=
XM_011538372.1:c.549G>A	XP_011536674.1:p.Glu183=
XM_017019313.2:c.393G>A	XP_016874802.1:p.Glu131=
XM_017019314.1:c.549G>A	XP_016874803.1:p.Glu183=
XM_024448982.1:c.549G>A	XP_024304750.1:p.Glu183=
NM_000431.4:c.549G>A MANE Select	NP_000422.1:p.Glu183=
NM_001114185.3:c.549G>A	NP_001107657.1:p.Glu183=
NM_001301182.2:c.393G>A	NP_001288111.1:p.Glu131=