Canonical Allele Identifier: CA8121076

Gene: LCAT

Linked Data

• dbSNP Id: rs781120479
• ExAC: 16:67976662 C / T
• gnomAD v2: 16-67976662-C-T
• gnomAD v4: 16-67942759-C-T
• MyVariant Identifiers: chr16:g.67976662C>T (hg19) ; chr16:g.67942759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942759C>T , CM000678.2:g.67942759C>T	GRCh38
NC_000016.9:g.67976662C>T , CM000678.1:g.67976662C>T	GRCh37
NC_000016.8:g.66534163C>T	NCBI36
NG_009778.1:g.6354G>A
NG_033098.1:g.30936G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.435G>A MANE Select	ENSP00000264005.5:p.Leu145=
ENST00000264005.9:c.435G>A	ENSP00000264005.5:p.Leu145=
ENST00000570369.5:c.155+102G>A
ENST00000570980.1:c.219G>A	ENSP00000464651.1:p.Leu73=
ENST00000573538.5:c.78G>A	ENSP00000463220.1:p.Leu26=
ENST00000573846.1:n.49G>A
ENST00000575277.1:n.213G>A
ENST00000575467.5:c.*130G>A	ENSP00000460653.1:n.*130G>A
NM_000229.1:c.435G>A	NP_000220.1:p.Leu145=
NM_000229.2:c.435G>A MANE Select	NP_000220.1:p.Leu145=