Canonical Allele Identifier: CA496384320

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976816A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942913A>T , CM000678.2:g.67942913A>T	GRCh38
NC_000016.9:g.67976816A>T , CM000678.1:g.67976816A>T	GRCh37
NC_000016.8:g.66534317A>T	NCBI36
NG_009778.1:g.6200T>A
NG_033098.1:g.30782T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.375T>A MANE Select	ENSP00000264005.5:p.Pro125=
ENST00000264005.9:c.375T>A	ENSP00000264005.5:p.Pro125=
ENST00000570369.5:c.103T>A
ENST00000570980.1:c.159T>A	ENSP00000464651.1:p.Pro53=
ENST00000573538.5:c.18T>A	ENSP00000463220.1:p.Pro6=
ENST00000575277.1:n.153T>A
ENST00000575467.5:c.*70T>A	ENSP00000460653.1:n.*70T>A
NM_000229.1:c.375T>A	NP_000220.1:p.Pro125=
NM_000229.2:c.375T>A MANE Select	NP_000220.1:p.Pro125=