Canonical Allele Identifier: CA723097999

Gene: LCAT

Linked Data

• dbSNP Id: rs1387500328
• gnomAD v4: 16-67940596-ACT-A
• MyVariant Identifiers: chr16:g.67974500_67974501del (hg19) ; chr16:g.67940597_67940598del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940599_67940600del , CM000678.2:g.67940599_67940600del	GRCh38
NC_000016.9:g.67974502_67974503del , CM000678.1:g.67974502_67974503del	GRCh37
NC_000016.8:g.66532003_66532004del	NCBI36
NG_009778.1:g.8515_8516del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-120_749-119del MANE Select	ENSP00000264005.5:n.749-120_749-119del
ENST00000264005.9:c.749-120_749-119del	ENSP00000264005.5:n.749-120_749-119del
ENST00000570369.5:c.156-524_156-523del
ENST00000570980.1:c.533-120_533-119del	ENSP00000464651.1:n.533-120_533-119del
ENST00000573538.5:c.487-120_487-119del	ENSP00000463220.1:n.487-120_487-119del
NM_000229.1:c.749-120_749-119del	NP_000220.1:n.749-120_749-119del
NM_000229.2:c.749-120_749-119del MANE Select	NP_000220.1:n.749-120_749-119del