Canonical Allele Identifier: CA386648983

Gene: MVK

Linked Data

• gnomAD v4: 12-109590779-C-G
• MyVariant Identifiers: chr12:g.110028584C>G (hg19) ; chr12:g.109590779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109590779C>G , CM000674.2:g.109590779C>G	GRCh38
NC_000012.11:g.110028584C>G , CM000674.1:g.110028584C>G	GRCh37
NC_000012.10:g.108512967C>G	NCBI36
NG_007702.1:g.22085C>G , LRG_156:g.22085C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.-91-67C>G	ENSP00000439134.1:n.-91-67C>G
ENST00000546277.6:c.686C>G	ENSP00000438153.2:p.Ala229Gly
ENST00000636529.2:n.325C>G
ENST00000697195.1:c.*450C>G	ENSP00000513181.1:n.*450C>G
ENST00000697196.1:c.774C>G	ENSP00000513182.1:p.Ser258Arg
ENST00000697197.1:n.2336C>G
ENST00000228510.8:c.686C>G MANE Select	ENSP00000228510.3:p.Ala229Gly
ENST00000636529.1:c.311C>G
ENST00000636996.1:c.534C>G
ENST00000228510.7:c.686C>G	ENSP00000228510.3:p.Ala229Gly
ENST00000392727.7:c.530C>G	ENSP00000376487.3:p.Ala177Gly
ENST00000447878.6:c.*133C>G	ENSP00000415555.2:n.*133C>G
ENST00000537237.5:c.*442-462C>G	ENSP00000445382.1:n.*442-462C>G
ENST00000539575.4:c.686C>G	ENSP00000443551.2:p.Ala229Gly
ENST00000539696.5:c.-91-67C>G	ENSP00000439134.1:n.-91-67C>G
ENST00000540353.1:n.2919C>G
ENST00000625889.2:c.530C>G	ENSP00000486846.1:p.Ala177Gly
ENST00000629016.2:c.*133C>G	ENSP00000486804.1:n.*133C>G
NM_000431.3:c.686C>G	NP_000422.1:p.Ala229Gly
NM_001114185.2:c.686C>G	NP_001107657.1:p.Ala229Gly
NM_001301182.1:c.530C>G	NP_001288111.1:p.Ala177Gly
XM_011538372.1:c.686C>G	XP_011536674.1:p.Ala229Gly
XM_017019313.2:c.530C>G	XP_016874802.1:p.Ala177Gly
XM_017019314.1:c.686C>G	XP_016874803.1:p.Ala229Gly
XM_024448982.1:c.686C>G	XP_024304750.1:p.Ala229Gly
NM_000431.4:c.686C>G MANE Select	NP_000422.1:p.Ala229Gly
NM_001114185.3:c.686C>G	NP_001107657.1:p.Ala229Gly
NM_001301182.2:c.530C>G	NP_001288111.1:p.Ala177Gly