Canonical Allele Identifier: CA127537

Gene: APOA1

Linked Data

• ClinVar Variation Id: 17909
• ClinVar RCV Id: RCV000019498
• dbSNP Id: rs28931573
• MyVariant Identifiers: chr11:g.116706739G>A (hg19) ; chr11:g.116836023G>A (hg38)
• PubMed: PMID:3936350 ; PMID:6401735 ; PMID:6776144 ; PMID:7430351 ; PMID:11425766 ; PMID:14600188

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