Canonical Allele Identifier: CA396376447

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67974381C>T (hg19) ; chr16:g.67940478C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940478C>T , CM000678.2:g.67940478C>T	GRCh38
NC_000016.9:g.67974381C>T , CM000678.1:g.67974381C>T	GRCh37
NC_000016.8:g.66531882C>T	NCBI36
NG_009778.1:g.8635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749G>A MANE Select	ENSP00000264005.5:p.Gly250Asp
ENST00000264005.9:c.749G>A	ENSP00000264005.5:p.Gly250Asp
ENST00000570369.5:c.156-404G>A
ENST00000570980.1:c.533G>A	ENSP00000464651.1:p.Gly178Asp
ENST00000573538.5:c.487G>A	ENSP00000463220.1:n.487G>A
NM_000229.1:c.749G>A	NP_000220.1:p.Gly250Asp
NM_000229.2:c.749G>A MANE Select	NP_000220.1:p.Gly250Asp