Canonical Allele Identifier: CA396375368

Gene: LCAT

Linked Data

• MyVariant Identifiers: chr16:g.67973880A>G (hg19) ; chr16:g.67939977A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67939977A>G , CM000678.2:g.67939977A>G	GRCh38
NC_000016.9:g.67973880A>G , CM000678.1:g.67973880A>G	GRCh37
NC_000016.8:g.66531381A>G	NCBI36
NG_009778.1:g.9136T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.1250T>C MANE Select	ENSP00000264005.5:p.Ile417Thr
ENST00000264005.9:c.1250T>C	ENSP00000264005.5:p.Ile417Thr
ENST00000570369.5:c.253T>C
ENST00000573538.5:c.988T>C	ENSP00000463220.1:n.988T>C
NM_000229.1:c.1250T>C	NP_000220.1:p.Ile417Thr
NM_000229.2:c.1250T>C MANE Select	NP_000220.1:p.Ile417Thr