Canonical Allele Identifier: CA8120986

Gene: LCAT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942345T>C , CM000678.2:g.67942345T>C	GRCh38
NC_000016.9:g.67976248T>C , CM000678.1:g.67976248T>C	GRCh37
NC_000016.8:g.66533749T>C	NCBI36
NG_009778.1:g.6768A>G
NG_033098.1:g.31350A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000229.2:c.748+18A>G MANE Select	NP_000220.1:n.748+18A>G
ENST00000264005.10:c.748+18A>G MANE Select	ENSP00000264005.5:n.748+18A>G
NM_000229.1:c.748+18A>G	NP_000220.1:n.748+18A>G
ENST00000264005.9:c.748+18A>G	ENSP00000264005.5:n.748+18A>G
ENST00000570369.5:c.155+516A>G
ENST00000570396.1:c.96+18A>G	ENSP00000459291.1:n.96+18A>G
ENST00000570980.1:c.532+18A>G	ENSP00000464651.1:n.532+18A>G
ENST00000573538.5:c.391+18A>G	ENSP00000463220.1:n.391+18A>G
ENST00000573846.1:n.380A>G
ENST00000575467.5:c.*443+18A>G	ENSP00000460653.1:n.*443+18A>G
ENST00000576450.1:c.215+18A>G