Canonical Allele Identifier: CA386651183

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110034234T>A (hg19) ; chr12:g.109596429T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109596429T>A , CM000674.2:g.109596429T>A	GRCh38
NC_000012.11:g.110034234T>A , CM000674.1:g.110034234T>A	GRCh37
NC_000012.10:g.108518617T>A	NCBI36
NG_007702.1:g.27735T>A , LRG_156:g.27735T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.200T>A	ENSP00000439134.1:p.Leu67Gln
ENST00000546277.6:c.1043T>A	ENSP00000438153.2:p.Leu348Gln
ENST00000636529.2:n.682T>A
ENST00000697195.1:c.*807T>A	ENSP00000513181.1:n.*807T>A
ENST00000697196.1:c.*216T>A	ENSP00000513182.1:n.*216T>A
ENST00000697197.1:n.3072T>A
ENST00000697198.1:n.1427T>A
ENST00000228510.8:c.1043T>A MANE Select	ENSP00000228510.3:p.Leu348Gln
ENST00000636529.1:c.668T>A
ENST00000636996.1:c.891T>A
ENST00000228510.7:c.1043T>A	ENSP00000228510.3:p.Leu348Gln
ENST00000392727.7:c.887T>A	ENSP00000376487.3:p.Leu296Gln
ENST00000447878.6:c.*490T>A	ENSP00000415555.2:n.*490T>A
ENST00000537237.5:c.*716T>A	ENSP00000445382.1:n.*716T>A
ENST00000539575.4:c.1043T>A	ENSP00000443551.2:p.Leu348Gln
ENST00000539696.5:c.200T>A	ENSP00000439134.1:p.Leu67Gln
ENST00000540353.1:n.3276T>A
ENST00000625889.2:c.887T>A	ENSP00000486846.1:p.Leu296Gln
ENST00000629016.2:c.*490T>A	ENSP00000486804.1:n.*490T>A
NM_000431.3:c.1043T>A	NP_000422.1:p.Leu348Gln
NM_001114185.2:c.1043T>A	NP_001107657.1:p.Leu348Gln
NM_001301182.1:c.887T>A	NP_001288111.1:p.Leu296Gln
XM_011538372.1:c.1043T>A	XP_011536674.1:p.Leu348Gln
XM_017019313.2:c.887T>A	XP_016874802.1:p.Leu296Gln
XM_017019314.1:c.1043T>A	XP_016874803.1:p.Leu348Gln
NM_000431.4:c.1043T>A MANE Select	NP_000422.1:p.Leu348Gln
NM_001114185.3:c.1043T>A	NP_001107657.1:p.Leu348Gln
NM_001301182.2:c.887T>A	NP_001288111.1:p.Leu296Gln