Canonical Allele Identifier: CA396381021

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67976844T>A (hg19) ; chr16:g.67942941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67942941T>A , CM000678.2:g.67942941T>A	GRCh38
NC_000016.9:g.67976844T>A , CM000678.1:g.67976844T>A	GRCh37
NC_000016.8:g.66534345T>A	NCBI36
NG_009778.1:g.6172A>T
NG_033098.1:g.30754A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.347A>T MANE Select	ENSP00000264005.5:p.Asn116Ile
ENST00000264005.9:c.347A>T	ENSP00000264005.5:p.Asn116Ile
ENST00000570369.5:c.75A>T
ENST00000570980.1:c.131A>T	ENSP00000464651.1:p.Asn44Ile
ENST00000575277.1:n.125A>T
ENST00000575467.5:c.*42A>T	ENSP00000460653.1:n.*42A>T
NM_000229.1:c.347A>T	NP_000220.1:p.Asn116Ile
NM_000229.2:c.347A>T MANE Select	NP_000220.1:p.Asn116Ile