Canonical Allele Identifier: CA382715294

Gene: APOA1

Linked Data

• ClinVar Variation Id: 1907392
• ClinVar RCV Id: RCV002578207
• gnomAD v4: 11-116836075-A-C
• MyVariant Identifiers: chr11:g.116706791A>C (hg19) ; chr11:g.116836075A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836075A>C , CM000673.2:g.116836075A>C	GRCh38
NC_000011.9:g.116706791A>C , CM000673.1:g.116706791A>C	GRCh37
NC_000011.8:g.116212001A>C	NCBI36
NG_012021.1:g.6548T>G , LRG_767:g.6548T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.537T>G MANE Select	ENSP00000236850.3:p.His179Gln
ENST00000236850.4:c.537T>G	ENSP00000236850.3:p.His179Gln
ENST00000359492.6:c.537T>G	ENSP00000352471.2:p.His179Gln
ENST00000375320.5:c.537T>G	ENSP00000364469.1:p.His179Gln
ENST00000375323.5:c.537T>G	ENSP00000364472.1:p.His179Gln
ENST00000375329.6:c.471T>G	ENSP00000364478.2:p.His157Gln
NM_000039.1:c.537T>G , LRG_767t1:c.537T>G	NP_000030.1:p.His179Gln
XM_005271539.2:c.537T>G	XP_005271596.1:p.His179Gln
XM_005271540.1:c.537T>G	XP_005271597.1:p.His179Gln
NM_000039.2:c.537T>G	NP_000030.1:p.His179Gln
NM_001318017.1:c.537T>G	NP_001304946.1:p.His179Gln
NM_001318018.1:c.537T>G	NP_001304947.1:p.His179Gln
NM_001318021.1:c.210T>G	NP_001304950.1:p.His70Gln
NM_001318017.2:c.537T>G	NP_001304946.1:p.His179Gln
NM_001318018.2:c.537T>G	NP_001304947.1:p.His179Gln
NM_000039.3:c.537T>G MANE Select	NP_000030.1:p.His179Gln