Canonical Allele Identifier: CA127561

Gene: APOA1 APOA1-AS

Linked Data

• ClinVar Variation Id: 17917
• ClinVar RCV Id: RCV000019506 ; RCV002504810 ; RCV003556050
• dbSNP Id: rs28931574
• MyVariant Identifiers: chr11:g.116707769C>G (hg19) ; chr11:g.116837053C>G (hg38)
• PubMed: PMID:2123470 ; PMID:3142462 ; PMID:4304452

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116837053C>G , CM000673.2:g.116837053C>G	GRCh38
NC_000011.9:g.116707769C>G , CM000673.1:g.116707769C>G	GRCh37
NC_000011.8:g.116212979C>G	NCBI36
NG_012021.1:g.5570G>C , LRG_767:g.5570G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236850.5:c.148G>C (APOA1) MANE Select	ENSP00000236850.3:p.Gly50Arg
ENST00000236850.4:c.148G>C (APOA1)	ENSP00000236850.3:p.Gly50Arg
ENST00000359492.6:c.148G>C (APOA1)	ENSP00000352471.2:p.Gly50Arg
ENST00000375320.5:c.148G>C (APOA1)	ENSP00000364469.1:p.Gly50Arg
ENST00000375323.5:c.148G>C (APOA1)	ENSP00000364472.1:p.Gly50Arg
ENST00000375329.6:c.134+292G>C (APOA1)	ENSP00000364478.2:n.134+292G>C
NM_000039.1:c.148G>C , LRG_767t1:c.148G>C (APOA1)	NP_000030.1:p.Gly50Arg
NR_126362.1:n.123+814C>G (APOA1-AS)
XM_005271539.2:c.148G>C (APOA1)	XP_005271596.1:p.Gly50Arg
XM_005271540.1:c.148G>C (APOA1)	XP_005271597.1:p.Gly50Arg
NM_000039.2:c.148G>C (APOA1)	NP_000030.1:p.Gly50Arg
NM_001318017.1:c.148G>C (APOA1)	NP_001304946.1:p.Gly50Arg
NM_001318018.1:c.148G>C (APOA1)	NP_001304947.1:p.Gly50Arg
NM_001318021.1:c.-180G>C (APOA1)	NP_001304950.1:n.-180G>C
NM_001318017.2:c.148G>C (APOA1)	NP_001304946.1:p.Gly50Arg
NM_001318018.2:c.148G>C (APOA1)	NP_001304947.1:p.Gly50Arg
NM_000039.3:c.148G>C (APOA1) MANE Select	NP_000030.1:p.Gly50Arg