Revel Score:
ENST00000224337 (MANE Select)
0.690
ENST00000371176
0.690
ENST00000427367
0.690
ENST00000413476
0.690
ENST00000537049
0.690
ENST00000393894
0.690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.96192068T>A , CM000672.2:g.96192068T>A | GRCh38 |
| NC_000010.10:g.97951824T>A , CM000672.1:g.97951824T>A | GRCh37 |
| NC_000010.9:g.97941814T>A | NCBI36 |
| NG_007575.1:g.89503A>T , LRG_21:g.89503A>T | |
| NG_033267.2:g.67849T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371176.7:c.1207A>T (BLNK) | ENSP00000360218.2:p.Ile403Phe | |
| ENST00000467799.7:c.*746A>T (BLNK) | ENSP00000466331.3:n.*746A>T | |
| ENST00000696248.1:c.805A>T (BLNK) | ENSP00000512505.1:p.Ile269Phe | |
| ENST00000696253.1:c.1051A>T (BLNK) | ENSP00000512506.1:p.Ile351Phe | |
| ENST00000696255.1:c.845A>T (BLNK) | ENSP00000512507.1:n.845A>T | |
| ENST00000696257.1:c.*939A>T (BLNK) | ENSP00000512509.1:n.*939A>T | |
| ENST00000696513.1:c.*60A>T (BLNK) | ENSP00000512679.1:n.*60A>T | |
| ENST00000696514.1:c.1264A>T (BLNK) | ENSP00000512680.1:p.Ile422Phe | |
| ENST00000696515.1:n.1544A>T (BLNK) | ||
| ENST00000696516.1:c.1048A>T (BLNK) | ENSP00000512681.1:n.1048A>T | |
| ENST00000696517.1:c.1043A>T (BLNK) | ENSP00000512682.1:n.1043A>T | |
| ENST00000696518.1:c.981A>T (BLNK) | ENSP00000512683.1:n.981A>T | |
| ENST00000696519.1:c.1070A>T (BLNK) | ENSP00000512684.1:n.1070A>T | |
| ENST00000696521.1:c.1226A>T (BLNK) | ENSP00000512685.1:n.1226A>T | |
| ENST00000696522.1:c.1116A>T (BLNK) | ENSP00000512686.1:n.1116A>T | |
| ENST00000696523.1:c.931A>T (BLNK) | ENSP00000512687.1:n.931A>T | |
| ENST00000224337.10:c.1276A>T (BLNK) MANE Select | ENSP00000224337.6:p.Ile426Phe | |
| ENST00000224337.9:c.1276A>T (BLNK) | ENSP00000224337.5:p.Ile426Phe | |
| ENST00000371176.6:c.1207A>T (BLNK) | ENSP00000360218.2:p.Ile403Phe | |
| ENST00000413476.6:c.1120A>T (BLNK) | ENSP00000397487.2:p.Ile374Phe | |
| ENST00000427367.6:c.805A>T (BLNK) | ENSP00000391924.3:p.Ile269Phe | |
| ENST00000442635.2:n.36-11506T>A (ZNF518A) | ||
| ENST00000563195.1:n.226-11852T>A (ZNF518A) | ||
| NM_001114094.1:c.1207A>T (BLNK) | NP_001107566.1:p.Ile403Phe | |
| NM_001258440.1:c.1120A>T (BLNK) | NP_001245369.1:p.Ile374Phe | |
| NM_001258441.1:c.1051A>T (BLNK) | NP_001245370.1:p.Ile351Phe | |
| NM_001258442.1:c.805A>T (BLNK) | NP_001245371.1:p.Ile269Phe | |
| NM_013314.3:c.1276A>T , LRG_21t1:c.1276A>T (BLNK) | NP_037446.1:p.Ile426Phe | |
| NR_047680.1:n.1218A>T (BLNK) | ||
| NR_047681.1:n.1166A>T (BLNK) | ||
| NR_047682.1:n.1161A>T (BLNK) | ||
| NR_047683.1:n.1099A>T (BLNK) | ||
| XM_011539728.1:c.1276A>T (BLNK) | XP_011538030.1:p.Ile426Phe | |
| NR_138482.1:n.430-11506T>A (ZNF518A) | ||
| XM_011539728.2:c.1276A>T (BLNK) | XP_011538030.1:p.Ile426Phe | |
| XM_017016159.1:c.1207A>T (BLNK) | XP_016871648.1:p.Ile403Phe | |
| NM_013314.4:c.1276A>T (BLNK) MANE Select | NP_037446.1:p.Ile426Phe | |
| NM_001114094.2:c.1207A>T (BLNK) | NP_001107566.1:p.Ile403Phe | |
| NM_001258440.2:c.1120A>T (BLNK) | NP_001245369.1:p.Ile374Phe | |
| NM_001258441.2:c.1051A>T (BLNK) | NP_001245370.1:p.Ile351Phe | |
| NM_001258442.2:c.805A>T (BLNK) | NP_001245371.1:p.Ile269Phe | |
| NR_047680.2:n.1271A>T (BLNK) | ||
| NR_047681.2:n.1219A>T (BLNK) | ||
| NR_047682.2:n.1214A>T (BLNK) | ||
| NR_047683.2:n.1152A>T (BLNK) |