Canonical Allele Identifier: CA396380759

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976794C>G (hg19) ; chr16:g.67942891C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942891C>G , CM000678.2:g.67942891C>G	GRCh38
NC_000016.9:g.67976794C>G , CM000678.1:g.67976794C>G	GRCh37
NC_000016.8:g.66534295C>G	NCBI36
NG_009778.1:g.6222G>C
NG_033098.1:g.30804G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264005.10:c.397G>C MANE Select	ENSP00000264005.5:p.Val133Leu
ENST00000264005.9:c.397G>C	ENSP00000264005.5:p.Val133Leu
ENST00000570369.5:c.125G>C
ENST00000570980.1:c.181G>C	ENSP00000464651.1:p.Val61Leu
ENST00000573538.5:c.40G>C	ENSP00000463220.1:p.Val14Leu
ENST00000573846.1:n.11G>C
ENST00000575277.1:n.175G>C
ENST00000575467.5:c.*92G>C	ENSP00000460653.1:n.*92G>C
NM_000229.1:c.397G>C	NP_000220.1:p.Val133Leu
NM_000229.2:c.397G>C MANE Select	NP_000220.1:p.Val133Leu