Canonical Allele Identifier: CA723098021

Gene: LCAT

Linked Data

• dbSNP Id: rs1433373322
• gnomAD v4: 16-67940639-TCA-T
• MyVariant Identifiers: chr16:g.67974543_67974544del (hg19) ; chr16:g.67940640_67940641del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940640_67940641del , CM000678.2:g.67940640_67940641del	GRCh38
NC_000016.9:g.67974543_67974544del , CM000678.1:g.67974543_67974544del	GRCh37
NC_000016.8:g.66532044_66532045del	NCBI36
NG_009778.1:g.8472_8473del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.749-163_749-162del MANE Select	ENSP00000264005.5:n.749-163_749-162del
ENST00000264005.9:c.749-163_749-162del	ENSP00000264005.5:n.749-163_749-162del
ENST00000570369.5:c.156-567_156-566del
ENST00000570980.1:c.533-163_533-162del	ENSP00000464651.1:n.533-163_533-162del
ENST00000573538.5:c.486+96_486+97del	ENSP00000463220.1:n.486+96_486+97del
NM_000229.1:c.749-163_749-162del	NP_000220.1:n.749-163_749-162del
NM_000229.2:c.749-163_749-162del MANE Select	NP_000220.1:n.749-163_749-162del