Canonical Allele Identifier: CA386650463

Gene: MVK

Linked Data

• MyVariant Identifiers: chr12:g.110032869C>T (hg19) ; chr12:g.109595064C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595064C>T , CM000674.2:g.109595064C>T	GRCh38
NC_000012.11:g.110032869C>T , CM000674.1:g.110032869C>T	GRCh37
NC_000012.10:g.108517252C>T	NCBI36
NG_007702.1:g.26370C>T , LRG_156:g.26370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000539696.6:c.79C>T	ENSP00000439134.1:p.Leu27Phe
ENST00000546277.6:c.922C>T	ENSP00000438153.2:p.Leu308Phe
ENST00000636529.2:n.561C>T
ENST00000697195.1:c.*686C>T	ENSP00000513181.1:n.*686C>T
ENST00000697196.1:c.*95C>T	ENSP00000513182.1:n.*95C>T
ENST00000697197.1:n.2951C>T
ENST00000697198.1:n.1306C>T
ENST00000228510.8:c.922C>T MANE Select	ENSP00000228510.3:p.Leu308Phe
ENST00000636529.1:c.547C>T
ENST00000636996.1:c.770C>T
ENST00000228510.7:c.922C>T	ENSP00000228510.3:p.Leu308Phe
ENST00000392727.7:c.766C>T	ENSP00000376487.3:p.Leu256Phe
ENST00000447878.6:c.*369C>T	ENSP00000415555.2:n.*369C>T
ENST00000537237.5:c.*595C>T	ENSP00000445382.1:n.*595C>T
ENST00000539575.4:c.922C>T	ENSP00000443551.2:p.Leu308Phe
ENST00000539696.5:c.79C>T	ENSP00000439134.1:p.Leu27Phe
ENST00000540353.1:n.3155C>T
ENST00000625889.2:c.766C>T	ENSP00000486846.1:p.Leu256Phe
ENST00000629016.2:c.*369C>T	ENSP00000486804.1:n.*369C>T
NM_000431.3:c.922C>T	NP_000422.1:p.Leu308Phe
NM_001114185.2:c.922C>T	NP_001107657.1:p.Leu308Phe
NM_001301182.1:c.766C>T	NP_001288111.1:p.Leu256Phe
XM_011538372.1:c.922C>T	XP_011536674.1:p.Leu308Phe
XM_017019313.2:c.766C>T	XP_016874802.1:p.Leu256Phe
XM_017019314.1:c.922C>T	XP_016874803.1:p.Leu308Phe
NM_000431.4:c.922C>T MANE Select	NP_000422.1:p.Leu308Phe
NM_001114185.3:c.922C>T	NP_001107657.1:p.Leu308Phe
NM_001301182.2:c.766C>T	NP_001288111.1:p.Leu256Phe