Canonical Allele Identifier: CA477048517

Gene: APOA1

Linked Data

• ClinVar Variation Id: 2868047
• ClinVar RCV Id: RCV003703109
• dbSNP Id: rs1396707510
• gnomAD v2: 11-116706551-C-T
• gnomAD v3: 11-116835835-C-T
• gnomAD v4: 11-116835835-C-T
• MyVariant Identifiers: chr11:g.116706551C>T (hg19) ; chr11:g.116835835C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116835835C>T , CM000673.2:g.116835835C>T	GRCh38
NC_000011.9:g.116706551C>T , CM000673.1:g.116706551C>T	GRCh37
NC_000011.8:g.116211761C>T	NCBI36
NG_012021.1:g.6788G>A , LRG_767:g.6788G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.777G>A MANE Select	ENSP00000236850.3:p.Glu259=
ENST00000236850.4:c.777G>A	ENSP00000236850.3:p.Glu259=
ENST00000359492.6:c.777G>A	ENSP00000352471.2:p.Glu259=
ENST00000375320.5:c.777G>A	ENSP00000364469.1:p.Glu259=
ENST00000375323.5:c.777G>A	ENSP00000364472.1:p.Glu259=
ENST00000375329.6:c.711G>A	ENSP00000364478.2:p.Glu237=
NM_000039.1:c.777G>A , LRG_767t1:c.777G>A	NP_000030.1:p.Glu259=
XM_005271539.2:c.777G>A	XP_005271596.1:p.Glu259=
XM_005271540.1:c.777G>A	XP_005271597.1:p.Glu259=
NM_000039.2:c.777G>A	NP_000030.1:p.Glu259=
NM_001318017.1:c.777G>A	NP_001304946.1:p.Glu259=
NM_001318018.1:c.777G>A	NP_001304947.1:p.Glu259=
NM_001318021.1:c.450G>A	NP_001304950.1:p.Glu150=
NM_001318017.2:c.777G>A	NP_001304946.1:p.Glu259=
NM_001318018.2:c.777G>A	NP_001304947.1:p.Glu259=
NM_000039.3:c.777G>A MANE Select	NP_000030.1:p.Glu259=