Canonical Allele Identifier: CA2229564351
Community Standard Title: NM_000229.2(LCAT):c.698T= (p.Leu233=)
Gene: LCAT HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_000229.2:c.698T= MANE Select NP_000220.1:p.Leu233=
ENST00000264005.10:c.698T= MANE Select ENSP00000264005.5:p.Leu233=
NM_000229.1:c.698T= NP_000220.1:p.Leu233=
ENST00000264005.9:c.698T= ENSP00000264005.5:p.Leu233=
ENST00000570369.5:c.155+448T=
ENST00000570396.1:c.46T= ENSP00000459291.1:p.Leu16=
ENST00000570980.1:c.482T= ENSP00000464651.1:p.Leu161=
ENST00000573538.5:c.341T= ENSP00000463220.1:p.Leu114=
ENST00000573846.1:n.312T=
ENST00000575277.1:n.559T=
ENST00000575467.5:c.*393T= ENSP00000460653.1:n.*393T=
ENST00000576450.1:c.165T=