Linked Data
ClinVar Variation Id:
8108
ClinVar RCV Id:
RCV000008576
RCV000184063
RCV000477939
RCV000490214
RCV000824803
RCV001084507
RCV002508916
dbSNP Id:
rs104893941
ExAC:
5:179263445 C / T
gnomAD v2:
5-179263445-C-T
gnomAD v3:
5-179836445-C-T
gnomAD v4:
5-179836445-C-T
PubMed:
PMID:11992264
PMID:14584883
PMID:15176995
PMID:15493999
PMID:15647816
PMID:15765181
PMID:16813535
PMID:18765443
PMID:19589897
PMID:20499339
PMID:21195346
PMID:21515589
PMID:21878516
PMID:22216904
PMID:22543925
PMID:23417734
PMID:23942205
PMID:24042580
PMID:24899140
PMID:25241215
PMID:26713335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179836445C>T , CM000667.2:g.179836445C>T | GRCh38 |
| NC_000005.9:g.179263445C>T , CM000667.1:g.179263445C>T | GRCh37 |
| NC_000005.8:g.179196051C>T | NCBI36 |
| NG_011342.1:g.35058C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389805.9:c.1175C>T (SQSTM1) MANE Select | ENSP00000374455.4:p.Pro392Leu | |
| ENST00000360718.5:c.923C>T (SQSTM1) | ENSP00000353944.5:p.Pro308Leu | |
| ENST00000389805.8:c.1175C>T (SQSTM1) | ENSP00000374455.4:p.Pro392Leu | |
| ENST00000510187.5:c.951-26C>T (SQSTM1) | ENSP00000424477.1:n.951-26C>T | |
| ENST00000522663.5:c.*1245G>A (MRNIP) | ENSP00000429835.1:n.*1245G>A | |
| NM_001142298.1:c.923C>T (SQSTM1) | NP_001135770.1:p.Pro308Leu | |
| NM_001142299.1:c.923C>T (SQSTM1) | NP_001135771.1:p.Pro308Leu | |
| NM_003900.4:c.1175C>T (SQSTM1) | NP_003891.1:p.Pro392Leu | |
| XM_017010010.1:c.923C>T (SQSTM1) | XP_016865499.1:p.Pro308Leu | |
| NM_003900.5:c.1175C>T (SQSTM1) MANE Select | NP_003891.1:p.Pro392Leu | |
| NM_001142298.2:c.923C>T (SQSTM1) | NP_001135770.1:p.Pro308Leu | |
| NM_001142299.2:c.923C>T (SQSTM1) | NP_001135771.1:p.Pro308Leu |