Canonical Allele Identifier: CA496384303

Gene: LCAT

Linked Data

• dbSNP Id: rs1231372622
• gnomAD v4: 16-67942895-G-A
• MyVariant Identifiers: chr16:g.67976798G>A (hg19) ; chr16:g.67942895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942895G>A , CM000678.2:g.67942895G>A	GRCh38
NC_000016.9:g.67976798G>A , CM000678.1:g.67976798G>A	GRCh37
NC_000016.8:g.66534299G>A	NCBI36
NG_009778.1:g.6218C>T
NG_033098.1:g.30800C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.393C>T MANE Select	ENSP00000264005.5:p.Tyr131=
ENST00000264005.9:c.393C>T	ENSP00000264005.5:p.Tyr131=
ENST00000570369.5:c.121C>T
ENST00000570980.1:c.177C>T	ENSP00000464651.1:p.Tyr59=
ENST00000573538.5:c.36C>T	ENSP00000463220.1:p.Tyr12=
ENST00000573846.1:n.7C>T
ENST00000575277.1:n.171C>T
ENST00000575467.5:c.*88C>T	ENSP00000460653.1:n.*88C>T
NM_000229.1:c.393C>T	NP_000220.1:p.Tyr131=
NM_000229.2:c.393C>T MANE Select	NP_000220.1:p.Tyr131=