Canonical Allele Identifier: CA382717440

Gene: APOA1 APOA1-AS

Linked Data

• ClinVar Variation Id: 2174166
• ClinVar RCV Id: RCV002585026 ; RCV004073385
• dbSNP Id: rs1226109269
• gnomAD v3: 11-116836385-C-T
• gnomAD v4: 11-116836385-C-T
• MyVariant Identifiers: chr11:g.116707101C>T (hg19) ; chr11:g.116836385C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836385C>T , CM000673.2:g.116836385C>T	GRCh38
NC_000011.9:g.116707101C>T , CM000673.1:g.116707101C>T	GRCh37
NC_000011.8:g.116212311C>T	NCBI36
NG_012021.1:g.6238G>A , LRG_767:g.6238G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.227G>A (APOA1) MANE Select	ENSP00000236850.3:p.Ser76Asn
ENST00000236850.4:c.227G>A (APOA1)	ENSP00000236850.3:p.Ser76Asn
ENST00000359492.6:c.227G>A (APOA1)	ENSP00000352471.2:p.Ser76Asn
ENST00000375320.5:c.227G>A (APOA1)	ENSP00000364469.1:p.Ser76Asn
ENST00000375323.5:c.227G>A (APOA1)	ENSP00000364472.1:p.Ser76Asn
ENST00000375329.6:c.161G>A (APOA1)	ENSP00000364478.2:p.Ser54Asn
NM_000039.1:c.227G>A , LRG_767t1:c.227G>A (APOA1)	NP_000030.1:p.Ser76Asn
NR_126362.1:n.123+146C>T (APOA1-AS)
XM_005271539.2:c.227G>A (APOA1)	XP_005271596.1:p.Ser76Asn
XM_005271540.1:c.227G>A (APOA1)	XP_005271597.1:p.Ser76Asn
NM_000039.2:c.227G>A (APOA1)	NP_000030.1:p.Ser76Asn
NM_001318017.1:c.227G>A (APOA1)	NP_001304946.1:p.Ser76Asn
NM_001318018.1:c.227G>A (APOA1)	NP_001304947.1:p.Ser76Asn
NM_001318021.1:c.-101G>A (APOA1)	NP_001304950.1:n.-101G>A
NM_001318017.2:c.227G>A (APOA1)	NP_001304946.1:p.Ser76Asn
NM_001318018.2:c.227G>A (APOA1)	NP_001304947.1:p.Ser76Asn
NM_000039.3:c.227G>A (APOA1) MANE Select	NP_000030.1:p.Ser76Asn