Canonical Allele Identifier: CA386647442

Gene: MVK

Linked Data

• gnomAD v4: 12-109586031-G-A
• MyVariant Identifiers: chr12:g.110023836G>A (hg19) ; chr12:g.109586031G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109586031G>A , CM000674.2:g.109586031G>A	GRCh38
NC_000012.11:g.110023836G>A , CM000674.1:g.110023836G>A	GRCh37
NC_000012.10:g.108508219G>A	NCBI36
NG_007702.1:g.17337G>A , LRG_156:g.17337G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-4815G>A	ENSP00000439134.1:n.-91-4815G>A
ENST00000546277.6:c.537G>A	ENSP00000438153.2:p.Lys179=
ENST00000636529.2:n.88G>A
ENST00000697195.1:c.*301G>A	ENSP00000513181.1:n.*301G>A
ENST00000697196.1:c.537G>A	ENSP00000513182.1:p.Lys179=
ENST00000228510.8:c.537G>A MANE Select	ENSP00000228510.3:p.Lys179=
ENST00000636529.1:c.74G>A
ENST00000636996.1:c.385G>A
ENST00000228510.7:c.537G>A	ENSP00000228510.3:p.Lys179=
ENST00000392727.7:c.381G>A	ENSP00000376487.3:p.Lys127=
ENST00000447878.6:c.236G>A	ENSP00000415555.2:p.Arg79Lys
ENST00000535044.1:n.481G>A
ENST00000537237.5:c.*301G>A	ENSP00000445382.1:n.*301G>A
ENST00000539575.4:c.537G>A	ENSP00000443551.2:p.Lys179=
ENST00000539696.5:c.-91-4815G>A	ENSP00000439134.1:n.-91-4815G>A
ENST00000545516.1:n.82G>A
ENST00000545774.5:c.236G>A	ENSP00000443978.1:p.Arg79Lys
ENST00000546277.5:c.537G>A	ENSP00000438153.1:p.Lys179=
ENST00000625889.2:c.381G>A	ENSP00000486846.1:p.Lys127=
ENST00000629016.2:c.236G>A	ENSP00000486804.1:p.Arg79Lys
NM_000431.3:c.537G>A	NP_000422.1:p.Lys179=
NM_001114185.2:c.537G>A	NP_001107657.1:p.Lys179=
NM_001301182.1:c.381G>A	NP_001288111.1:p.Lys127=
XM_011538372.1:c.537G>A	XP_011536674.1:p.Lys179=
XM_017019313.2:c.381G>A	XP_016874802.1:p.Lys127=
XM_017019314.1:c.537G>A	XP_016874803.1:p.Lys179=
XM_024448982.1:c.537G>A	XP_024304750.1:p.Lys179=
NM_000431.4:c.537G>A MANE Select	NP_000422.1:p.Lys179=
NM_001114185.3:c.537G>A	NP_001107657.1:p.Lys179=
NM_001301182.2:c.381G>A	NP_001288111.1:p.Lys127=