Canonical Allele Identifier: CA243462636

Gene: MVK

Linked Data

• dbSNP Id: rs528586649
• gnomAD v3: 12-109596506-G-A
• gnomAD v4: 12-109596506-G-A
• MyVariant Identifiers: chr12:g.110034311G>A (hg19) ; chr12:g.109596506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596506G>A , CM000674.2:g.109596506G>A	GRCh38
NC_000012.11:g.110034311G>A , CM000674.1:g.110034311G>A	GRCh37
NC_000012.10:g.108518694G>A	NCBI36
NG_007702.1:g.27812G>A , LRG_156:g.27812G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.277G>A	ENSP00000439134.1:p.Ala93Thr
ENST00000546277.6:c.1120G>A	ENSP00000438153.2:p.Ala374Thr
ENST00000636529.2:n.759G>A
ENST00000697195.1:c.*884G>A	ENSP00000513181.1:n.*884G>A
ENST00000697196.1:c.*293G>A	ENSP00000513182.1:n.*293G>A
ENST00000697197.1:n.3149G>A
ENST00000697198.1:n.1504G>A
ENST00000228510.8:c.1120G>A MANE Select	ENSP00000228510.3:p.Ala374Thr
ENST00000636529.1:c.745G>A
ENST00000636996.1:c.968G>A
ENST00000228510.7:c.1120G>A	ENSP00000228510.3:p.Ala374Thr
ENST00000392727.7:c.964G>A	ENSP00000376487.3:p.Ala322Thr
ENST00000447878.6:c.*567G>A	ENSP00000415555.2:n.*567G>A
ENST00000537237.5:c.*793G>A	ENSP00000445382.1:n.*793G>A
ENST00000539575.4:c.1120G>A	ENSP00000443551.2:p.Ala374Thr
ENST00000539696.5:c.277G>A	ENSP00000439134.1:p.Ala93Thr
ENST00000540353.1:n.3353G>A
ENST00000625889.2:c.964G>A	ENSP00000486846.1:p.Ala322Thr
ENST00000629016.2:c.*567G>A	ENSP00000486804.1:n.*567G>A
NM_000431.3:c.1120G>A	NP_000422.1:p.Ala374Thr
NM_001114185.2:c.1120G>A	NP_001107657.1:p.Ala374Thr
NM_001301182.1:c.964G>A	NP_001288111.1:p.Ala322Thr
XM_011538372.1:c.1120G>A	XP_011536674.1:p.Ala374Thr
XM_017019313.2:c.964G>A	XP_016874802.1:p.Ala322Thr
XM_017019314.1:c.1120G>A	XP_016874803.1:p.Ala374Thr
NM_000431.4:c.1120G>A MANE Select	NP_000422.1:p.Ala374Thr
NM_001114185.3:c.1120G>A	NP_001107657.1:p.Ala374Thr
NM_001301182.2:c.964G>A	NP_001288111.1:p.Ala322Thr