Canonical Allele Identifier: CA386651378

Gene: MVK

Linked Data

• dbSNP Id: rs1412026128
• gnomAD v2: 12-110034308-G-A
• gnomAD v3: 12-109596503-G-A
• gnomAD v4: 12-109596503-G-A
• COSMIC: COSM1195066
• MyVariant Identifiers: chr12:g.110034308G>A (hg19) ; chr12:g.109596503G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596503G>A , CM000674.2:g.109596503G>A	GRCh38
NC_000012.11:g.110034308G>A , CM000674.1:g.110034308G>A	GRCh37
NC_000012.10:g.108518691G>A	NCBI36
NG_007702.1:g.27809G>A , LRG_156:g.27809G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.274G>A	ENSP00000439134.1:p.Gly92Ser
ENST00000546277.6:c.1117G>A	ENSP00000438153.2:p.Gly373Ser
ENST00000636529.2:n.756G>A
ENST00000697195.1:c.*881G>A	ENSP00000513181.1:n.*881G>A
ENST00000697196.1:c.*290G>A	ENSP00000513182.1:n.*290G>A
ENST00000697197.1:n.3146G>A
ENST00000697198.1:n.1501G>A
ENST00000228510.8:c.1117G>A MANE Select	ENSP00000228510.3:p.Gly373Ser
ENST00000636529.1:c.742G>A
ENST00000636996.1:c.965G>A
ENST00000228510.7:c.1117G>A	ENSP00000228510.3:p.Gly373Ser
ENST00000392727.7:c.961G>A	ENSP00000376487.3:p.Gly321Ser
ENST00000447878.6:c.*564G>A	ENSP00000415555.2:n.*564G>A
ENST00000537237.5:c.*790G>A	ENSP00000445382.1:n.*790G>A
ENST00000539575.4:c.1117G>A	ENSP00000443551.2:p.Gly373Ser
ENST00000539696.5:c.274G>A	ENSP00000439134.1:p.Gly92Ser
ENST00000540353.1:n.3350G>A
ENST00000625889.2:c.961G>A	ENSP00000486846.1:p.Gly321Ser
ENST00000629016.2:c.*564G>A	ENSP00000486804.1:n.*564G>A
NM_000431.3:c.1117G>A	NP_000422.1:p.Gly373Ser
NM_001114185.2:c.1117G>A	NP_001107657.1:p.Gly373Ser
NM_001301182.1:c.961G>A	NP_001288111.1:p.Gly321Ser
XM_011538372.1:c.1117G>A	XP_011536674.1:p.Gly373Ser
XM_017019313.2:c.961G>A	XP_016874802.1:p.Gly321Ser
XM_017019314.1:c.1117G>A	XP_016874803.1:p.Gly373Ser
NM_000431.4:c.1117G>A MANE Select	NP_000422.1:p.Gly373Ser
NM_001114185.3:c.1117G>A	NP_001107657.1:p.Gly373Ser
NM_001301182.2:c.961G>A	NP_001288111.1:p.Gly321Ser