Canonical Allele Identifier: CA396375390

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973890T>A (hg19) ; chr16:g.67939987T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939987T>A , CM000678.2:g.67939987T>A	GRCh38
NC_000016.9:g.67973890T>A , CM000678.1:g.67973890T>A	GRCh37
NC_000016.8:g.66531391T>A	NCBI36
NG_009778.1:g.9126A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1240A>T MANE Select	ENSP00000264005.5:p.Ile414Phe
ENST00000264005.9:c.1240A>T	ENSP00000264005.5:p.Ile414Phe
ENST00000570369.5:c.243A>T
ENST00000573538.5:c.978A>T	ENSP00000463220.1:n.978A>T
NM_000229.1:c.1240A>T	NP_000220.1:p.Ile414Phe
NM_000229.2:c.1240A>T MANE Select	NP_000220.1:p.Ile414Phe