Canonical Allele Identifier: CA396376317

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67974324A>T (hg19) ; chr16:g.67940421A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940421A>T , CM000678.2:g.67940421A>T	GRCh38
NC_000016.9:g.67974324A>T , CM000678.1:g.67974324A>T	GRCh37
NC_000016.8:g.66531825A>T	NCBI36
NG_009778.1:g.8692T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.806T>A MANE Select	ENSP00000264005.5:p.Ile269Lys
ENST00000264005.9:c.806T>A	ENSP00000264005.5:p.Ile269Lys
ENST00000570369.5:c.156-347T>A
ENST00000570980.1:c.590T>A	ENSP00000464651.1:p.Ile197Lys
ENST00000573538.5:c.544T>A	ENSP00000463220.1:n.544T>A
NM_000229.1:c.806T>A	NP_000220.1:p.Ile269Lys
NM_000229.2:c.806T>A MANE Select	NP_000220.1:p.Ile269Lys