Canonical Allele Identifier: CA382715427

Gene: APOA1

Linked Data

• ClinVar Variation Id: 2777266
• ClinVar RCV Id: RCV003658909
• dbSNP Id: rs752951478
• gnomAD v2: 11-116706820-C-A
• gnomAD v4: 11-116836104-C-A
• MyVariant Identifiers: chr11:g.116706820C>A (hg19) ; chr11:g.116836104C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116836104C>A , CM000673.2:g.116836104C>A	GRCh38
NC_000011.9:g.116706820C>A , CM000673.1:g.116706820C>A	GRCh37
NC_000011.8:g.116212030C>A	NCBI36
NG_012021.1:g.6519G>T , LRG_767:g.6519G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000236850.5:c.508G>T MANE Select	ENSP00000236850.3:p.Glu170Ter
ENST00000236850.4:c.508G>T	ENSP00000236850.3:p.Glu170Ter
ENST00000359492.6:c.508G>T	ENSP00000352471.2:p.Glu170Ter
ENST00000375320.5:c.508G>T	ENSP00000364469.1:p.Glu170Ter
ENST00000375323.5:c.508G>T	ENSP00000364472.1:p.Glu170Ter
ENST00000375329.6:c.442G>T	ENSP00000364478.2:p.Glu148Ter
NM_000039.1:c.508G>T , LRG_767t1:c.508G>T	NP_000030.1:p.Glu170Ter
XM_005271539.2:c.508G>T	XP_005271596.1:p.Glu170Ter
XM_005271540.1:c.508G>T	XP_005271597.1:p.Glu170Ter
NM_000039.2:c.508G>T	NP_000030.1:p.Glu170Ter
NM_001318017.1:c.508G>T	NP_001304946.1:p.Glu170Ter
NM_001318018.1:c.508G>T	NP_001304947.1:p.Glu170Ter
NM_001318021.1:c.181G>T	NP_001304950.1:p.Glu61Ter
NM_001318017.2:c.508G>T	NP_001304946.1:p.Glu170Ter
NM_001318018.2:c.508G>T	NP_001304947.1:p.Glu170Ter
NM_000039.3:c.508G>T MANE Select	NP_000030.1:p.Glu170Ter