Canonical Allele Identifier: CA396375375

Gene: LCAT

Linked Data

• gnomAD v4: 16-67939980-G-T
• MyVariant Identifiers: chr16:g.67973883G>T (hg19) ; chr16:g.67939980G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939980G>T , CM000678.2:g.67939980G>T	GRCh38
NC_000016.9:g.67973883G>T , CM000678.1:g.67973883G>T	GRCh37
NC_000016.8:g.66531384G>T	NCBI36
NG_009778.1:g.9133C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1247C>A MANE Select	ENSP00000264005.5:p.Ala416Asp
ENST00000264005.9:c.1247C>A	ENSP00000264005.5:p.Ala416Asp
ENST00000570369.5:c.250C>A
ENST00000573538.5:c.985C>A	ENSP00000463220.1:n.985C>A
NM_000229.1:c.1247C>A	NP_000220.1:p.Ala416Asp
NM_000229.2:c.1247C>A MANE Select	NP_000220.1:p.Ala416Asp