Canonical Allele Identifier: CA386650283

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032842G>C (hg19) ; chr12:g.109595037G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.52G>C	ENSP00000439134.1:p.Asp18His
ENST00000546277.6:c.895G>C	ENSP00000438153.2:p.Asp299His
ENST00000636529.2:n.534G>C
ENST00000697195.1:c.*659G>C	ENSP00000513181.1:n.*659G>C
ENST00000697196.1:c.*68G>C	ENSP00000513182.1:n.*68G>C
ENST00000697197.1:n.2924G>C
ENST00000697198.1:n.1279G>C
ENST00000228510.8:c.895G>C MANE Select	ENSP00000228510.3:p.Asp299His
ENST00000636529.1:c.520G>C
ENST00000636996.1:c.743G>C
ENST00000228510.7:c.895G>C	ENSP00000228510.3:p.Asp299His
ENST00000392727.7:c.739G>C	ENSP00000376487.3:p.Asp247His
ENST00000447878.6:c.*342G>C	ENSP00000415555.2:n.*342G>C
ENST00000537237.5:c.*568G>C	ENSP00000445382.1:n.*568G>C
ENST00000539575.4:c.895G>C	ENSP00000443551.2:p.Asp299His
ENST00000539696.5:c.52G>C	ENSP00000439134.1:p.Asp18His
ENST00000540353.1:n.3128G>C
ENST00000625889.2:c.739G>C	ENSP00000486846.1:p.Asp247His
ENST00000629016.2:c.*342G>C	ENSP00000486804.1:n.*342G>C
NM_000431.3:c.895G>C	NP_000422.1:p.Asp299His
NM_001114185.2:c.895G>C	NP_001107657.1:p.Asp299His
NM_001301182.1:c.739G>C	NP_001288111.1:p.Asp247His
XM_011538372.1:c.895G>C	XP_011536674.1:p.Asp299His
XM_017019313.2:c.739G>C	XP_016874802.1:p.Asp247His
XM_017019314.1:c.895G>C	XP_016874803.1:p.Asp299His
NM_000431.4:c.895G>C MANE Select	NP_000422.1:p.Asp299His
NM_001114185.3:c.895G>C	NP_001107657.1:p.Asp299His
NM_001301182.2:c.739G>C	NP_001288111.1:p.Asp247His