Canonical Allele Identifier: CA496384197

Gene: LCAT

Linked Data

• dbSNP Id: rs1166054336
• gnomAD v2: 16-67976635-G-A
• gnomAD v4: 16-67942732-G-A
• MyVariant Identifiers: chr16:g.67976635G>A (hg19) ; chr16:g.67942732G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942732G>A , CM000678.2:g.67942732G>A	GRCh38
NC_000016.9:g.67976635G>A , CM000678.1:g.67976635G>A	GRCh37
NC_000016.8:g.66534136G>A	NCBI36
NG_009778.1:g.6381C>T
NG_033098.1:g.30963C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.462C>T MANE Select	ENSP00000264005.5:p.Asn154=
ENST00000264005.9:c.462C>T	ENSP00000264005.5:p.Asn154=
ENST00000570369.5:c.155+129C>T
ENST00000570980.1:c.246C>T	ENSP00000464651.1:p.Asn82=
ENST00000573538.5:c.105C>T	ENSP00000463220.1:p.Asn35=
ENST00000573846.1:n.76C>T
ENST00000575277.1:n.240C>T
ENST00000575467.5:c.*157C>T	ENSP00000460653.1:n.*157C>T
NM_000229.1:c.462C>T	NP_000220.1:p.Asn154=
NM_000229.2:c.462C>T MANE Select	NP_000220.1:p.Asn154=