Canonical Allele Identifier: CA6779380

Gene: MVK

Linked Data

• ClinVar Variation Id: 2050379
• ClinVar RCV Id: RCV002921873
• dbSNP Id: rs373753405
• ExAC: 12:110029058 G / A
• gnomAD v2: 12-110029058-G-A
• gnomAD v3: 12-109591253-G-A
• gnomAD v4: 12-109591253-G-A
• MyVariant Identifiers: chr12:g.110029058G>A (hg19) ; chr12:g.109591253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109591253G>A , CM000674.2:g.109591253G>A	GRCh38
NC_000012.11:g.110029058G>A , CM000674.1:g.110029058G>A	GRCh37
NC_000012.10:g.108513441G>A	NCBI36
NG_007702.1:g.22559G>A , LRG_156:g.22559G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-63G>A	ENSP00000439134.1:n.-63G>A
ENST00000546277.6:c.781G>A	ENSP00000438153.2:p.Val261Met
ENST00000636529.2:n.420G>A
ENST00000697195.1:c.*545G>A	ENSP00000513181.1:n.*545G>A
ENST00000697196.1:c.869G>A	ENSP00000513182.1:p.Arg290His
ENST00000697197.1:n.2810G>A
ENST00000228510.8:c.781G>A MANE Select	ENSP00000228510.3:p.Val261Met
ENST00000636529.1:c.406G>A
ENST00000636996.1:c.629G>A
ENST00000228510.7:c.781G>A	ENSP00000228510.3:p.Val261Met
ENST00000392727.7:c.625G>A	ENSP00000376487.3:p.Val209Met
ENST00000447878.6:c.*228G>A	ENSP00000415555.2:n.*228G>A
ENST00000537237.5:c.*454G>A	ENSP00000445382.1:n.*454G>A
ENST00000539575.4:c.781G>A	ENSP00000443551.2:p.Val261Met
ENST00000539696.5:c.-63G>A	ENSP00000439134.1:n.-63G>A
ENST00000540353.1:n.3014G>A
ENST00000625889.2:c.625G>A	ENSP00000486846.1:p.Val209Met
ENST00000629016.2:c.*228G>A	ENSP00000486804.1:n.*228G>A
NM_000431.3:c.781G>A	NP_000422.1:p.Val261Met
NM_001114185.2:c.781G>A	NP_001107657.1:p.Val261Met
NM_001301182.1:c.625G>A	NP_001288111.1:p.Val209Met
XM_011538372.1:c.781G>A	XP_011536674.1:p.Val261Met
XM_017019313.2:c.625G>A	XP_016874802.1:p.Val209Met
XM_017019314.1:c.781G>A	XP_016874803.1:p.Val261Met
XM_024448982.1:c.781G>A	XP_024304750.1:p.Val261Met
NM_000431.4:c.781G>A MANE Select	NP_000422.1:p.Val261Met
NM_001114185.3:c.781G>A	NP_001107657.1:p.Val261Met
NM_001301182.2:c.625G>A	NP_001288111.1:p.Val209Met