Canonical Allele Identifier: CA6289795

Gene: APOA1

Linked Data

• ClinVar Variation Id: 302503
• ClinVar RCV Id: RCV000285625 ; RCV000382429 ; RCV001859795 ; RCV002338877
• dbSNP Id: rs757899657
• ExAC: 11:116706830 G / T
• gnomAD v2: 11-116706830-G-T
• gnomAD v3: 11-116836114-G-T
• gnomAD v4: 11-116836114-G-T
• MyVariant Identifiers: chr11:g.116706830G>T (hg19) ; chr11:g.116836114G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836114G>T , CM000673.2:g.116836114G>T	GRCh38
NC_000011.9:g.116706830G>T , CM000673.1:g.116706830G>T	GRCh37
NC_000011.8:g.116212040G>T	NCBI36
NG_012021.1:g.6509C>A , LRG_767:g.6509C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.498C>A MANE Select	ENSP00000236850.3:p.Ser166Arg
ENST00000236850.4:c.498C>A	ENSP00000236850.3:p.Ser166Arg
ENST00000359492.6:c.498C>A	ENSP00000352471.2:p.Ser166Arg
ENST00000375320.5:c.498C>A	ENSP00000364469.1:p.Ser166Arg
ENST00000375323.5:c.498C>A	ENSP00000364472.1:p.Ser166Arg
ENST00000375329.6:c.432C>A	ENSP00000364478.2:p.Ser144Arg
NM_000039.1:c.498C>A , LRG_767t1:c.498C>A	NP_000030.1:p.Ser166Arg
XM_005271539.2:c.498C>A	XP_005271596.1:p.Ser166Arg
XM_005271540.1:c.498C>A	XP_005271597.1:p.Ser166Arg
NM_000039.2:c.498C>A	NP_000030.1:p.Ser166Arg
NM_001318017.1:c.498C>A	NP_001304946.1:p.Ser166Arg
NM_001318018.1:c.498C>A	NP_001304947.1:p.Ser166Arg
NM_001318021.1:c.171C>A	NP_001304950.1:p.Ser57Arg
NM_001318017.2:c.498C>A	NP_001304946.1:p.Ser166Arg
NM_001318018.2:c.498C>A	NP_001304947.1:p.Ser166Arg
NM_000039.3:c.498C>A MANE Select	NP_000030.1:p.Ser166Arg