Canonical Allele Identifier: CA6289792
Gene: APOA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2332981
ClinVar RCV Id: RCV004179236
dbSNP Id: rs752951478

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000236850.5:c.508G>A MANE Select ENSP00000236850.3:p.Glu170Lys
ENST00000236850.4:c.508G>A ENSP00000236850.3:p.Glu170Lys
ENST00000359492.6:c.508G>A ENSP00000352471.2:p.Glu170Lys
ENST00000375320.5:c.508G>A ENSP00000364469.1:p.Glu170Lys
ENST00000375323.5:c.508G>A ENSP00000364472.1:p.Glu170Lys
ENST00000375329.6:c.442G>A ENSP00000364478.2:p.Glu148Lys
NM_000039.1:c.508G>A , LRG_767t1:c.508G>A NP_000030.1:p.Glu170Lys
XM_005271539.2:c.508G>A XP_005271596.1:p.Glu170Lys
XM_005271540.1:c.508G>A XP_005271597.1:p.Glu170Lys
NM_000039.2:c.508G>A NP_000030.1:p.Glu170Lys
NM_001318017.1:c.508G>A NP_001304946.1:p.Glu170Lys
NM_001318018.1:c.508G>A NP_001304947.1:p.Glu170Lys
NM_001318021.1:c.181G>A NP_001304950.1:p.Glu61Lys
NM_001318017.2:c.508G>A NP_001304946.1:p.Glu170Lys
NM_001318018.2:c.508G>A NP_001304947.1:p.Glu170Lys
NM_000039.3:c.508G>A MANE Select NP_000030.1:p.Glu170Lys