Canonical Allele Identifier: CA386650284

Gene: MVK

Linked Data

• dbSNP Id: rs1885854517
• MyVariant Identifiers: chr12:g.110032842G>T (hg19) ; chr12:g.109595037G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595037G>T , CM000674.2:g.109595037G>T	GRCh38
NC_000012.11:g.110032842G>T , CM000674.1:g.110032842G>T	GRCh37
NC_000012.10:g.108517225G>T	NCBI36
NG_007702.1:g.26343G>T , LRG_156:g.26343G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.52G>T	ENSP00000439134.1:p.Asp18Tyr
ENST00000546277.6:c.895G>T	ENSP00000438153.2:p.Asp299Tyr
ENST00000636529.2:n.534G>T
ENST00000697195.1:c.*659G>T	ENSP00000513181.1:n.*659G>T
ENST00000697196.1:c.*68G>T	ENSP00000513182.1:n.*68G>T
ENST00000697197.1:n.2924G>T
ENST00000697198.1:n.1279G>T
ENST00000228510.8:c.895G>T MANE Select	ENSP00000228510.3:p.Asp299Tyr
ENST00000636529.1:c.520G>T
ENST00000636996.1:c.743G>T
ENST00000228510.7:c.895G>T	ENSP00000228510.3:p.Asp299Tyr
ENST00000392727.7:c.739G>T	ENSP00000376487.3:p.Asp247Tyr
ENST00000447878.6:c.*342G>T	ENSP00000415555.2:n.*342G>T
ENST00000537237.5:c.*568G>T	ENSP00000445382.1:n.*568G>T
ENST00000539575.4:c.895G>T	ENSP00000443551.2:p.Asp299Tyr
ENST00000539696.5:c.52G>T	ENSP00000439134.1:p.Asp18Tyr
ENST00000540353.1:n.3128G>T
ENST00000625889.2:c.739G>T	ENSP00000486846.1:p.Asp247Tyr
ENST00000629016.2:c.*342G>T	ENSP00000486804.1:n.*342G>T
NM_000431.3:c.895G>T	NP_000422.1:p.Asp299Tyr
NM_001114185.2:c.895G>T	NP_001107657.1:p.Asp299Tyr
NM_001301182.1:c.739G>T	NP_001288111.1:p.Asp247Tyr
XM_011538372.1:c.895G>T	XP_011536674.1:p.Asp299Tyr
XM_017019313.2:c.739G>T	XP_016874802.1:p.Asp247Tyr
XM_017019314.1:c.895G>T	XP_016874803.1:p.Asp299Tyr
NM_000431.4:c.895G>T MANE Select	NP_000422.1:p.Asp299Tyr
NM_001114185.3:c.895G>T	NP_001107657.1:p.Asp299Tyr
NM_001301182.2:c.739G>T	NP_001288111.1:p.Asp247Tyr