Canonical Allele Identifier: CA386650776

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032926C>T (hg19) ; chr12:g.109595121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595121C>T , CM000674.2:g.109595121C>T	GRCh38
NC_000012.11:g.110032926C>T , CM000674.1:g.110032926C>T	GRCh37
NC_000012.10:g.108517309C>T	NCBI36
NG_007702.1:g.26427C>T , LRG_156:g.26427C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.136C>T	ENSP00000439134.1:p.Leu46Phe
ENST00000546277.6:c.979C>T	ENSP00000438153.2:p.Leu327Phe
ENST00000636529.2:n.618C>T
ENST00000697195.1:c.*743C>T	ENSP00000513181.1:n.*743C>T
ENST00000697196.1:c.*152C>T	ENSP00000513182.1:n.*152C>T
ENST00000697197.1:n.3008C>T
ENST00000697198.1:n.1363C>T
ENST00000228510.8:c.979C>T MANE Select	ENSP00000228510.3:p.Leu327Phe
ENST00000636529.1:c.604C>T
ENST00000636996.1:c.827C>T
ENST00000228510.7:c.979C>T	ENSP00000228510.3:p.Leu327Phe
ENST00000392727.7:c.823C>T	ENSP00000376487.3:p.Leu275Phe
ENST00000447878.6:c.*426C>T	ENSP00000415555.2:n.*426C>T
ENST00000537237.5:c.*652C>T	ENSP00000445382.1:n.*652C>T
ENST00000539575.4:c.979C>T	ENSP00000443551.2:p.Leu327Phe
ENST00000539696.5:c.136C>T	ENSP00000439134.1:p.Leu46Phe
ENST00000540353.1:n.3212C>T
ENST00000625889.2:c.823C>T	ENSP00000486846.1:p.Leu275Phe
ENST00000629016.2:c.*426C>T	ENSP00000486804.1:n.*426C>T
NM_000431.3:c.979C>T	NP_000422.1:p.Leu327Phe
NM_001114185.2:c.979C>T	NP_001107657.1:p.Leu327Phe
NM_001301182.1:c.823C>T	NP_001288111.1:p.Leu275Phe
XM_011538372.1:c.979C>T	XP_011536674.1:p.Leu327Phe
XM_017019313.2:c.823C>T	XP_016874802.1:p.Leu275Phe
XM_017019314.1:c.979C>T	XP_016874803.1:p.Leu327Phe
NM_000431.4:c.979C>T MANE Select	NP_000422.1:p.Leu327Phe
NM_001114185.3:c.979C>T	NP_001107657.1:p.Leu327Phe
NM_001301182.2:c.823C>T	NP_001288111.1:p.Leu275Phe