Canonical Allele Identifier: CA396376241

Gene: LCAT

Linked Data

• gnomAD v4: 16-67940384-C-T
• MyVariant Identifiers: chr16:g.67974287C>T (hg19) ; chr16:g.67940384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940384C>T , CM000678.2:g.67940384C>T	GRCh38
NC_000016.9:g.67974287C>T , CM000678.1:g.67974287C>T	GRCh37
NC_000016.8:g.66531788C>T	NCBI36
NG_009778.1:g.8729G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.843G>A MANE Select	ENSP00000264005.5:p.Met281Ile
ENST00000264005.9:c.843G>A	ENSP00000264005.5:p.Met281Ile
ENST00000570369.5:c.156-310G>A
ENST00000570980.1:c.627G>A	ENSP00000464651.1:p.Met209Ile
ENST00000573538.5:c.581G>A	ENSP00000463220.1:n.581G>A
NM_000229.1:c.843G>A	NP_000220.1:p.Met281Ile
NM_000229.2:c.843G>A MANE Select	NP_000220.1:p.Met281Ile