Canonical Allele Identifier: CA116421
Gene: LCAT HGNC NCBI

Linked Data

ClinVar Variation Id: 3665
ClinVar RCV Id: RCV000003850
dbSNP Id: rs121908054

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.67940400A>T , CM000678.2:g.67940400A>T GRCh38
NC_000016.9:g.67974303A>T , CM000678.1:g.67974303A>T GRCh37
NC_000016.8:g.66531804A>T NCBI36
NG_009778.1:g.8713T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264005.10:c.827T>A MANE Select ENSP00000264005.5:p.Met276Lys
ENST00000264005.9:c.827T>A ENSP00000264005.5:p.Met276Lys
ENST00000570369.5:c.156-326T>A
ENST00000570980.1:c.611T>A ENSP00000464651.1:p.Met204Lys
ENST00000573538.5:c.565T>A ENSP00000463220.1:n.565T>A
NM_000229.1:c.827T>A NP_000220.1:p.Met276Lys
NM_000229.2:c.827T>A MANE Select NP_000220.1:p.Met276Lys