Canonical Allele Identifier: CA496384272

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976774G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942871G>A , CM000678.2:g.67942871G>A	GRCh38
NC_000016.9:g.67976774G>A , CM000678.1:g.67976774G>A	GRCh37
NC_000016.8:g.66534275G>A	NCBI36
NG_009778.1:g.6242C>T
NG_033098.1:g.30824C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.417C>T MANE Select	ENSP00000264005.5:p.Ser139=
ENST00000264005.9:c.417C>T	ENSP00000264005.5:p.Ser139=
ENST00000570369.5:c.145C>T
ENST00000570980.1:c.201C>T	ENSP00000464651.1:p.Ser67=
ENST00000573538.5:c.60C>T	ENSP00000463220.1:p.Ser20=
ENST00000573846.1:n.31C>T
ENST00000575277.1:n.195C>T
ENST00000575467.5:c.*112C>T	ENSP00000460653.1:n.*112C>T
NM_000229.1:c.417C>T	NP_000220.1:p.Ser139=
NM_000229.2:c.417C>T MANE Select	NP_000220.1:p.Ser139=