Canonical Allele Identifier: CA396377941

Gene: LCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942413A>T , CM000678.2:g.67942413A>T	GRCh38
NC_000016.9:g.67976316A>T , CM000678.1:g.67976316A>T	GRCh37
NC_000016.8:g.66533817A>T	NCBI36
NG_009778.1:g.6700T>A
NG_033098.1:g.31282T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000229.2:c.698T>A MANE Select	NP_000220.1:p.Leu233His
ENST00000264005.10:c.698T>A MANE Select	ENSP00000264005.5:p.Leu233His
NM_000229.1:c.698T>A	NP_000220.1:p.Leu233His
ENST00000264005.9:c.698T>A	ENSP00000264005.5:p.Leu233His
ENST00000570369.5:c.155+448T>A
ENST00000570396.1:c.46T>A	ENSP00000459291.1:p.Leu16Met
ENST00000570980.1:c.482T>A	ENSP00000464651.1:p.Leu161His
ENST00000573538.5:c.341T>A	ENSP00000463220.1:p.Leu114His
ENST00000573846.1:n.312T>A
ENST00000575277.1:n.559T>A
ENST00000575467.5:c.*393T>A	ENSP00000460653.1:n.*393T>A
ENST00000576450.1:c.165T>A