Canonical Allele Identifier: CA723098106

Gene: LCAT

Linked Data

• dbSNP Id: rs1167919296
• gnomAD v4: 16-67940828-GTC-G
• MyVariant Identifiers: chr16:g.67974732_67974733del (hg19) ; chr16:g.67940829_67940830del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940832_67940833del , CM000678.2:g.67940832_67940833del	GRCh38
NC_000016.9:g.67974735_67974736del , CM000678.1:g.67974735_67974736del	GRCh37
NC_000016.8:g.66532236_66532237del	NCBI36
NG_009778.1:g.8283_8284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-352_749-351del MANE Select	ENSP00000264005.5:n.749-352_749-351del
ENST00000264005.9:c.749-352_749-351del	ENSP00000264005.5:n.749-352_749-351del
ENST00000570369.5:c.156-756_156-755del
ENST00000570980.1:c.533-352_533-351del	ENSP00000464651.1:n.533-352_533-351del
ENST00000573538.5:c.393_394del
NM_000229.1:c.749-352_749-351del	NP_000220.1:n.749-352_749-351del
NM_000229.2:c.749-352_749-351del MANE Select	NP_000220.1:n.749-352_749-351del