Canonical Allele Identifier: CA8120922

Gene: LCAT

Linked Data

• ClinVar Variation Id: 320198
• ClinVar RCV Id: RCV000338613 ; RCV002374539 ; RCV002522885
• dbSNP Id: rs139453193
• ExAC: 16:67974149 T / G
• gnomAD v2: 16-67974149-T-G
• gnomAD v3: 16-67940246-T-G
• gnomAD v4: 16-67940246-T-G
• MyVariant Identifiers: chr16:g.67974149T>G (hg19) ; chr16:g.67940246T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.67940246T>G , CM000678.2:g.67940246T>G	GRCh38
NC_000016.9:g.67974149T>G , CM000678.1:g.67974149T>G	GRCh37
NC_000016.8:g.66531650T>G	NCBI36
NG_009778.1:g.8867A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264005.10:c.981A>C MANE Select	ENSP00000264005.5:p.Gly327=
ENST00000264005.9:c.981A>C	ENSP00000264005.5:p.Gly327=
ENST00000570369.5:c.156-172A>C
ENST00000570980.1:c.765A>C	ENSP00000464651.1:p.Gly255=
ENST00000573538.5:c.719A>C	ENSP00000463220.1:n.719A>C
NM_000229.1:c.981A>C	NP_000220.1:p.Gly327=
NM_000229.2:c.981A>C MANE Select	NP_000220.1:p.Gly327=