Revel Score:
ENST00000218388 (MANE Select)
0.796
ENST00000377018
0.796
ENST00000377017
0.796
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47585584T>C , CM000685.2:g.47585584T>C | GRCh38 |
| NC_000023.10:g.47444983T>C , CM000685.1:g.47444983T>C | GRCh37 |
| NC_000023.9:g.47329927T>C | NCBI36 |
| NG_008437.1:g.39274A>G | |
| NG_012533.1:g.8294T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218388.9:c.370T>C (TIMP1) MANE Select | ENSP00000218388.4:p.Phe124Leu | |
| ENST00000295987.13:c.775-8083A>G (SYN1) MANE Select | ENSP00000295987.7:n.775-8083A>G | |
| ENST00000340666.5:c.775-8083A>G (SYN1) | ENSP00000343206.4:n.775-8083A>G | |
| ENST00000218388.8:c.370T>C (TIMP1) | ENSP00000218388.4:p.Phe124Leu | |
| ENST00000295987.11:c.775-8083A>G (SYN1) | ENSP00000295987.7:n.775-8083A>G | |
| ENST00000340666.4:c.775-8083A>G (SYN1) | ENSP00000343206.4:n.775-8083A>G | |
| ENST00000377017.5:c.178T>C (TIMP1) | ENSP00000366216.1:p.Phe60Leu | |
| ENST00000445623.1:c.243T>C (TIMP1) | ||
| ENST00000456754.6:c.*170T>C (TIMP1) | ENSP00000406671.2:n.*170T>C | |
| NM_003254.2:c.370T>C (TIMP1) | NP_003245.1:p.Phe124Leu | |
| NM_006950.3:c.775-8083A>G (SYN1) MANE Select | NP_008881.2:n.775-8083A>G | |
| NM_133499.2:c.775-8083A>G (SYN1) | NP_598006.1:n.775-8083A>G | |
| XM_005272645.3:c.352T>C (TIMP1) | XP_005272702.1:p.Phe118Leu | |
| XM_017029766.2:c.352T>C (TIMP1) | XP_016885255.1:p.Phe118Leu | |
| NM_003254.3:c.370T>C (TIMP1) MANE Select | NP_003245.1:p.Phe124Leu |