Canonical Allele Identifier: CA496384290
Gene: LCAT HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.67976783C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67942880C>T , CM000678.2:g.67942880C>T GRCh38
NC_000016.9:g.67976783C>T , CM000678.1:g.67976783C>T GRCh37
NC_000016.8:g.66534284C>T NCBI36
NG_009778.1:g.6233G>A
NG_033098.1:g.30815G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000264005.10:c.408G>A MANE Select ENSP00000264005.5:p.Leu136=
ENST00000264005.9:c.408G>A ENSP00000264005.5:p.Leu136=
ENST00000570369.5:c.136G>A
ENST00000570980.1:c.192G>A ENSP00000464651.1:p.Leu64=
ENST00000573538.5:c.51G>A ENSP00000463220.1:p.Leu17=
ENST00000573846.1:n.22G>A
ENST00000575277.1:n.186G>A
ENST00000575467.5:c.*103G>A ENSP00000460653.1:n.*103G>A
NM_000229.1:c.408G>A NP_000220.1:p.Leu136=
NM_000229.2:c.408G>A MANE Select NP_000220.1:p.Leu136=