Linked Data
ClinVar Variation Id:
17920
dbSNP Id:
rs28929476
ExAC:
11:116707816 C / A
gnomAD v2:
11-116707816-C-A
gnomAD v3:
11-116837100-C-A
gnomAD v4:
11-116837100-C-A
PubMed:
PMID:2108924
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116837100C>A , CM000673.2:g.116837100C>A | GRCh38 |
| NC_000011.9:g.116707816C>A , CM000673.1:g.116707816C>A | GRCh37 |
| NC_000011.8:g.116213026C>A | NCBI36 |
| NG_012021.1:g.5523G>T , LRG_767:g.5523G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236850.5:c.101G>T (APOA1) MANE Select | ENSP00000236850.3:p.Arg34Leu | |
| ENST00000236850.4:c.101G>T (APOA1) | ENSP00000236850.3:p.Arg34Leu | |
| ENST00000359492.6:c.101G>T (APOA1) | ENSP00000352471.2:p.Arg34Leu | |
| ENST00000375320.5:c.101G>T (APOA1) | ENSP00000364469.1:p.Arg34Leu | |
| ENST00000375323.5:c.101G>T (APOA1) | ENSP00000364472.1:p.Arg34Leu | |
| ENST00000375329.6:c.134+245G>T (APOA1) | ENSP00000364478.2:n.134+245G>T | |
| NM_000039.1:c.101G>T , LRG_767t1:c.101G>T (APOA1) | NP_000030.1:p.Arg34Leu | |
| NR_126362.1:n.123+861C>A (APOA1-AS) | ||
| XM_005271539.2:c.101G>T (APOA1) | XP_005271596.1:p.Arg34Leu | |
| XM_005271540.1:c.101G>T (APOA1) | XP_005271597.1:p.Arg34Leu | |
| NM_000039.2:c.101G>T (APOA1) | NP_000030.1:p.Arg34Leu | |
| NM_001318017.1:c.101G>T (APOA1) | NP_001304946.1:p.Arg34Leu | |
| NM_001318018.1:c.101G>T (APOA1) | NP_001304947.1:p.Arg34Leu | |
| NM_001318021.1:c.-227G>T (APOA1) | NP_001304950.1:n.-227G>T | |
| NM_001318017.2:c.101G>T (APOA1) | NP_001304946.1:p.Arg34Leu | |
| NM_001318018.2:c.101G>T (APOA1) | NP_001304947.1:p.Arg34Leu | |
| NM_000039.3:c.101G>T (APOA1) MANE Select | NP_000030.1:p.Arg34Leu |