Canonical Allele Identifier: CA396375373

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973883G>A (hg19) ; chr16:g.67939980G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1247C>T MANE Select	ENSP00000264005.5:p.Ala416Val
ENST00000264005.9:c.1247C>T	ENSP00000264005.5:p.Ala416Val
ENST00000570369.5:c.250C>T
ENST00000573538.5:c.985C>T	ENSP00000463220.1:n.985C>T
NM_000229.1:c.1247C>T	NP_000220.1:p.Ala416Val
NM_000229.2:c.1247C>T MANE Select	NP_000220.1:p.Ala416Val