Canonical Allele Identifier: CA396375361

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973877A>C (hg19) ; chr16:g.67939974A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939974A>C , CM000678.2:g.67939974A>C	GRCh38
NC_000016.9:g.67973877A>C , CM000678.1:g.67973877A>C	GRCh37
NC_000016.8:g.66531378A>C	NCBI36
NG_009778.1:g.9139T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1253T>G MANE Select	ENSP00000264005.5:p.Leu418Arg
ENST00000264005.9:c.1253T>G	ENSP00000264005.5:p.Leu418Arg
ENST00000570369.5:c.256T>G
ENST00000573538.5:c.991T>G	ENSP00000463220.1:n.991T>G
NM_000229.1:c.1253T>G	NP_000220.1:p.Leu418Arg
NM_000229.2:c.1253T>G MANE Select	NP_000220.1:p.Leu418Arg