Canonical Allele Identifier: CA396375378

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973884C>T (hg19) ; chr16:g.67939981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939981C>T , CM000678.2:g.67939981C>T	GRCh38
NC_000016.9:g.67973884C>T , CM000678.1:g.67973884C>T	GRCh37
NC_000016.8:g.66531385C>T	NCBI36
NG_009778.1:g.9132G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1246G>A MANE Select	ENSP00000264005.5:p.Ala416Thr
ENST00000264005.9:c.1246G>A	ENSP00000264005.5:p.Ala416Thr
ENST00000570369.5:c.249G>A
ENST00000573538.5:c.984G>A	ENSP00000463220.1:n.984G>A
NM_000229.1:c.1246G>A	NP_000220.1:p.Ala416Thr
NM_000229.2:c.1246G>A MANE Select	NP_000220.1:p.Ala416Thr