Revel Score:
ENST00000218388 (MANE Select)
0.607
ENST00000377018
0.607
ENST00000377017
0.607
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47585586T>A , CM000685.2:g.47585586T>A | GRCh38 |
| NC_000023.10:g.47444985T>A , CM000685.1:g.47444985T>A | GRCh37 |
| NC_000023.9:g.47329929T>A | NCBI36 |
| NG_008437.1:g.39272A>T | |
| NG_012533.1:g.8296T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218388.9:c.372T>A (TIMP1) MANE Select | ENSP00000218388.4:p.Phe124Leu | |
| ENST00000295987.13:c.775-8085A>T (SYN1) MANE Select | ENSP00000295987.7:n.775-8085A>T | |
| ENST00000340666.5:c.775-8085A>T (SYN1) | ENSP00000343206.4:n.775-8085A>T | |
| ENST00000218388.8:c.372T>A (TIMP1) | ENSP00000218388.4:p.Phe124Leu | |
| ENST00000295987.11:c.775-8085A>T (SYN1) | ENSP00000295987.7:n.775-8085A>T | |
| ENST00000340666.4:c.775-8085A>T (SYN1) | ENSP00000343206.4:n.775-8085A>T | |
| ENST00000377017.5:c.180T>A (TIMP1) | ENSP00000366216.1:p.Phe60Leu | |
| ENST00000445623.1:c.245T>A (TIMP1) | ||
| ENST00000456754.6:c.*172T>A (TIMP1) | ENSP00000406671.2:n.*172T>A | |
| NM_003254.2:c.372T>A (TIMP1) | NP_003245.1:p.Phe124Leu | |
| NM_006950.3:c.775-8085A>T (SYN1) MANE Select | NP_008881.2:n.775-8085A>T | |
| NM_133499.2:c.775-8085A>T (SYN1) | NP_598006.1:n.775-8085A>T | |
| XM_005272645.3:c.354T>A (TIMP1) | XP_005272702.1:p.Phe118Leu | |
| XM_017029766.2:c.354T>A (TIMP1) | XP_016885255.1:p.Phe118Leu | |
| NM_003254.3:c.372T>A (TIMP1) MANE Select | NP_003245.1:p.Phe124Leu |