Canonical Allele Identifier: CA396375340

Gene: LCAT

Linked Data

• dbSNP Id: rs756365811
• MyVariant Identifiers: chr16:g.67973865T>G (hg19) ; chr16:g.67939962T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939962T>G , CM000678.2:g.67939962T>G	GRCh38
NC_000016.9:g.67973865T>G , CM000678.1:g.67973865T>G	GRCh37
NC_000016.8:g.66531366T>G	NCBI36
NG_009778.1:g.9151A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1265A>C MANE Select	ENSP00000264005.5:p.Tyr422Ser
ENST00000264005.9:c.1265A>C	ENSP00000264005.5:p.Tyr422Ser
ENST00000570369.5:c.268A>C
ENST00000573538.5:c.1003A>C	ENSP00000463220.1:n.1003A>C
NM_000229.1:c.1265A>C	NP_000220.1:p.Tyr422Ser
NM_000229.2:c.1265A>C MANE Select	NP_000220.1:p.Tyr422Ser