Canonical Allele Identifier: CA386650840

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032939T>A (hg19) ; chr12:g.109595134T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595134T>A , CM000674.2:g.109595134T>A	GRCh38
NC_000012.11:g.110032939T>A , CM000674.1:g.110032939T>A	GRCh37
NC_000012.10:g.108517322T>A	NCBI36
NG_007702.1:g.26440T>A , LRG_156:g.26440T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.149T>A	ENSP00000439134.1:p.Leu50Gln
ENST00000546277.6:c.992T>A	ENSP00000438153.2:p.Leu331Gln
ENST00000636529.2:n.631T>A
ENST00000697195.1:c.*756T>A	ENSP00000513181.1:n.*756T>A
ENST00000697196.1:c.*165T>A	ENSP00000513182.1:n.*165T>A
ENST00000697197.1:n.3021T>A
ENST00000697198.1:n.1376T>A
ENST00000228510.8:c.992T>A MANE Select	ENSP00000228510.3:p.Leu331Gln
ENST00000636529.1:c.617T>A
ENST00000636996.1:c.840T>A
ENST00000228510.7:c.992T>A	ENSP00000228510.3:p.Leu331Gln
ENST00000392727.7:c.836T>A	ENSP00000376487.3:p.Leu279Gln
ENST00000447878.6:c.*439T>A	ENSP00000415555.2:n.*439T>A
ENST00000537237.5:c.*665T>A	ENSP00000445382.1:n.*665T>A
ENST00000539575.4:c.992T>A	ENSP00000443551.2:p.Leu331Gln
ENST00000539696.5:c.149T>A	ENSP00000439134.1:p.Leu50Gln
ENST00000540353.1:n.3225T>A
ENST00000625889.2:c.836T>A	ENSP00000486846.1:p.Leu279Gln
ENST00000629016.2:c.*439T>A	ENSP00000486804.1:n.*439T>A
NM_000431.3:c.992T>A	NP_000422.1:p.Leu331Gln
NM_001114185.2:c.992T>A	NP_001107657.1:p.Leu331Gln
NM_001301182.1:c.836T>A	NP_001288111.1:p.Leu279Gln
XM_011538372.1:c.992T>A	XP_011536674.1:p.Leu331Gln
XM_017019313.2:c.836T>A	XP_016874802.1:p.Leu279Gln
XM_017019314.1:c.992T>A	XP_016874803.1:p.Leu331Gln
NM_000431.4:c.992T>A MANE Select	NP_000422.1:p.Leu331Gln
NM_001114185.3:c.992T>A	NP_001107657.1:p.Leu331Gln
NM_001301182.2:c.836T>A	NP_001288111.1:p.Leu279Gln