Canonical Allele Identifier: CA481714938

Gene: MVK

Linked Data

• dbSNP Id: rs1885675127
• gnomAD v3: 12-109591354-G-A
• gnomAD v4: 12-109591354-G-A
• MyVariant Identifiers: chr12:g.110029159G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591354G>A , CM000674.2:g.109591354G>A	GRCh38
NC_000012.11:g.110029159G>A , CM000674.1:g.110029159G>A	GRCh37
NC_000012.10:g.108513542G>A	NCBI36
NG_007702.1:g.22660G>A , LRG_156:g.22660G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.39G>A	ENSP00000439134.1:p.Leu13=
ENST00000546277.6:c.882G>A	ENSP00000438153.2:p.Leu294=
ENST00000636529.2:n.521G>A
ENST00000697195.1:c.*646G>A	ENSP00000513181.1:n.*646G>A
ENST00000697196.1:c.*55G>A	ENSP00000513182.1:n.*55G>A
ENST00000697197.1:n.2911G>A
ENST00000228510.8:c.882G>A MANE Select	ENSP00000228510.3:p.Leu294=
ENST00000636529.1:c.507G>A
ENST00000636996.1:c.730G>A
ENST00000228510.7:c.882G>A	ENSP00000228510.3:p.Leu294=
ENST00000392727.7:c.726G>A	ENSP00000376487.3:p.Leu242=
ENST00000447878.6:c.*329G>A	ENSP00000415555.2:n.*329G>A
ENST00000537237.5:c.*555G>A	ENSP00000445382.1:n.*555G>A
ENST00000539575.4:c.882G>A	ENSP00000443551.2:p.Leu294=
ENST00000539696.5:c.39G>A	ENSP00000439134.1:p.Leu13=
ENST00000540353.1:n.3115G>A
ENST00000625889.2:c.726G>A	ENSP00000486846.1:p.Leu242=
ENST00000629016.2:c.*329G>A	ENSP00000486804.1:n.*329G>A
NM_000431.3:c.882G>A	NP_000422.1:p.Leu294=
NM_001114185.2:c.882G>A	NP_001107657.1:p.Leu294=
NM_001301182.1:c.726G>A	NP_001288111.1:p.Leu242=
XM_011538372.1:c.882G>A	XP_011536674.1:p.Leu294=
XM_017019313.2:c.726G>A	XP_016874802.1:p.Leu242=
XM_017019314.1:c.882G>A	XP_016874803.1:p.Leu294=
XM_024448982.1:c.882G>A	XP_024304750.1:p.Leu294=
NM_000431.4:c.882G>A MANE Select	NP_000422.1:p.Leu294=
NM_001114185.3:c.882G>A	NP_001107657.1:p.Leu294=
NM_001301182.2:c.726G>A	NP_001288111.1:p.Leu242=