Canonical Allele Identifier: CA386650973

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032962T>G (hg19) ; chr12:g.109595157T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595157T>G , CM000674.2:g.109595157T>G	GRCh38
NC_000012.11:g.110032962T>G , CM000674.1:g.110032962T>G	GRCh37
NC_000012.10:g.108517345T>G	NCBI36
NG_007702.1:g.26463T>G , LRG_156:g.26463T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.172T>G	ENSP00000439134.1:p.Cys58Gly
ENST00000546277.6:c.1015T>G	ENSP00000438153.2:p.Cys339Gly
ENST00000636529.2:n.654T>G
ENST00000697195.1:c.*779T>G	ENSP00000513181.1:n.*779T>G
ENST00000697196.1:c.*188T>G	ENSP00000513182.1:n.*188T>G
ENST00000697197.1:n.3044T>G
ENST00000697198.1:n.1399T>G
ENST00000228510.8:c.1015T>G MANE Select	ENSP00000228510.3:p.Cys339Gly
ENST00000636529.1:c.640T>G
ENST00000636996.1:c.863T>G
ENST00000228510.7:c.1015T>G	ENSP00000228510.3:p.Cys339Gly
ENST00000392727.7:c.859T>G	ENSP00000376487.3:p.Cys287Gly
ENST00000447878.6:c.*462T>G	ENSP00000415555.2:n.*462T>G
ENST00000537237.5:c.*688T>G	ENSP00000445382.1:n.*688T>G
ENST00000539575.4:c.1015T>G	ENSP00000443551.2:p.Cys339Gly
ENST00000539696.5:c.172T>G	ENSP00000439134.1:p.Cys58Gly
ENST00000540353.1:n.3248T>G
ENST00000625889.2:c.859T>G	ENSP00000486846.1:p.Cys287Gly
ENST00000629016.2:c.*462T>G	ENSP00000486804.1:n.*462T>G
NM_000431.3:c.1015T>G	NP_000422.1:p.Cys339Gly
NM_001114185.2:c.1015T>G	NP_001107657.1:p.Cys339Gly
NM_001301182.1:c.859T>G	NP_001288111.1:p.Cys287Gly
XM_011538372.1:c.1015T>G	XP_011536674.1:p.Cys339Gly
XM_017019313.2:c.859T>G	XP_016874802.1:p.Cys287Gly
XM_017019314.1:c.1015T>G	XP_016874803.1:p.Cys339Gly
NM_000431.4:c.1015T>G MANE Select	NP_000422.1:p.Cys339Gly
NM_001114185.3:c.1015T>G	NP_001107657.1:p.Cys339Gly
NM_001301182.2:c.859T>G	NP_001288111.1:p.Cys287Gly