Canonical Allele Identifier: CA723097992

Gene: LCAT

Linked Data

• dbSNP Id: rs1233557949
• gnomAD v4: 16-67940589-GAC-G
• MyVariant Identifiers: chr16:g.67974493_67974494del (hg19) ; chr16:g.67940590_67940591del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940593_67940594del , CM000678.2:g.67940593_67940594del	GRCh38
NC_000016.9:g.67974496_67974497del , CM000678.1:g.67974496_67974497del	GRCh37
NC_000016.8:g.66531997_66531998del	NCBI36
NG_009778.1:g.8522_8523del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-113_749-112del MANE Select	ENSP00000264005.5:n.749-113_749-112del
ENST00000264005.9:c.749-113_749-112del	ENSP00000264005.5:n.749-113_749-112del
ENST00000570369.5:c.156-517_156-516del
ENST00000570980.1:c.533-113_533-112del	ENSP00000464651.1:n.533-113_533-112del
ENST00000573538.5:c.487-113_487-112del	ENSP00000463220.1:n.487-113_487-112del
NM_000229.1:c.749-113_749-112del	NP_000220.1:n.749-113_749-112del
NM_000229.2:c.749-113_749-112del MANE Select	NP_000220.1:n.749-113_749-112del