Canonical Allele Identifier: CA386651427

Gene: MVK

Linked Data

• dbSNP Id: rs1228719941
• MyVariant Identifiers: chr12:g.110034335G>A (hg19) ; chr12:g.109596530G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596530G>A , CM000674.2:g.109596530G>A	GRCh38
NC_000012.11:g.110034335G>A , CM000674.1:g.110034335G>A	GRCh37
NC_000012.10:g.108518718G>A	NCBI36
NG_007702.1:g.27836G>A , LRG_156:g.27836G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.301G>A	ENSP00000439134.1:p.Ala101Thr
ENST00000546277.6:c.1144G>A	ENSP00000438153.2:p.Ala382Thr
ENST00000636529.2:n.783G>A
ENST00000697195.1:c.*908G>A	ENSP00000513181.1:n.*908G>A
ENST00000697196.1:c.*317G>A	ENSP00000513182.1:n.*317G>A
ENST00000697197.1:n.3173G>A
ENST00000697198.1:n.1528G>A
ENST00000228510.8:c.1144G>A MANE Select	ENSP00000228510.3:p.Ala382Thr
ENST00000636529.1:c.769G>A
ENST00000636996.1:c.992G>A
ENST00000228510.7:c.1144G>A	ENSP00000228510.3:p.Ala382Thr
ENST00000392727.7:c.988G>A	ENSP00000376487.3:p.Ala330Thr
ENST00000447878.6:c.*591G>A	ENSP00000415555.2:n.*591G>A
ENST00000537237.5:c.*817G>A	ENSP00000445382.1:n.*817G>A
ENST00000539575.4:c.1144G>A	ENSP00000443551.2:p.Ala382Thr
ENST00000539696.5:c.301G>A	ENSP00000439134.1:p.Ala101Thr
ENST00000540353.1:n.3377G>A
ENST00000625889.2:c.988G>A	ENSP00000486846.1:p.Ala330Thr
ENST00000629016.2:c.*591G>A	ENSP00000486804.1:n.*591G>A
NM_000431.3:c.1144G>A	NP_000422.1:p.Ala382Thr
NM_001114185.2:c.1144G>A	NP_001107657.1:p.Ala382Thr
NM_001301182.1:c.988G>A	NP_001288111.1:p.Ala330Thr
XM_011538372.1:c.1144G>A	XP_011536674.1:p.Ala382Thr
XM_017019313.2:c.988G>A	XP_016874802.1:p.Ala330Thr
XM_017019314.1:c.1144G>A	XP_016874803.1:p.Ala382Thr
NM_000431.4:c.1144G>A MANE Select	NP_000422.1:p.Ala382Thr
NM_001114185.3:c.1144G>A	NP_001107657.1:p.Ala382Thr
NM_001301182.2:c.988G>A	NP_001288111.1:p.Ala330Thr