Canonical Allele Identifier: CA127537
Gene: APOA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17909
ClinVar RCV Id: RCV000019498
dbSNP Id: rs28931573

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116836023G>A , CM000673.2:g.116836023G>A GRCh38
NC_000011.9:g.116706739G>A , CM000673.1:g.116706739G>A GRCh37
NC_000011.8:g.116211949G>A NCBI36
NG_012021.1:g.6600C>T , LRG_767:g.6600C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000236850.5:c.589C>T MANE Select ENSP00000236850.3:p.Arg197Cys
ENST00000236850.4:c.589C>T ENSP00000236850.3:p.Arg197Cys
ENST00000359492.6:c.589C>T ENSP00000352471.2:p.Arg197Cys
ENST00000375320.5:c.589C>T ENSP00000364469.1:p.Arg197Cys
ENST00000375323.5:c.589C>T ENSP00000364472.1:p.Arg197Cys
ENST00000375329.6:c.523C>T ENSP00000364478.2:p.Arg175Cys
NM_000039.1:c.589C>T , LRG_767t1:c.589C>T NP_000030.1:p.Arg197Cys
XM_005271539.2:c.589C>T XP_005271596.1:p.Arg197Cys
XM_005271540.1:c.589C>T XP_005271597.1:p.Arg197Cys
NM_000039.2:c.589C>T NP_000030.1:p.Arg197Cys
NM_001318017.1:c.589C>T NP_001304946.1:p.Arg197Cys
NM_001318018.1:c.589C>T NP_001304947.1:p.Arg197Cys
NM_001318021.1:c.262C>T NP_001304950.1:p.Arg88Cys
NM_001318017.2:c.589C>T NP_001304946.1:p.Arg197Cys
NM_001318018.2:c.589C>T NP_001304947.1:p.Arg197Cys
NM_000039.3:c.589C>T MANE Select NP_000030.1:p.Arg197Cys