Revel Score:
ENST00000296043 (MANE Select)
0.005
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.63014257 (AFR)
Genomes Max Group AF
0.62700967 (AFR)
Exomes Max Group AF
0.62961962 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76754352C>T , CM000666.2:g.76754352C>T | GRCh38 |
| NC_000004.11:g.77675505C>T , CM000666.1:g.77675505C>T | GRCh37 |
| NC_000004.10:g.77894529C>T | NCBI36 |
| NG_028077.1:g.324253C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296043.7:c.3869C>T (SHROOM3) MANE Select | ENSP00000296043.6:p.Pro1290Leu | |
| ENST00000646790.1:c.3626C>T (SHROOM3) | ENSP00000494970.1:p.Pro1209Leu | |
| ENST00000296043.6:c.3869C>T (SHROOM3) | ENSP00000296043.6:p.Pro1290Leu | |
| ENST00000469923.5:n.530C>T (SHROOM3) | ||
| NM_020859.3:c.3869C>T (SHROOM3) | NP_065910.3:p.Pro1290Leu | |
| XM_005263162.3:c.3869C>T (SHROOM3) | XP_005263219.1:p.Pro1290Leu | |
| XM_005263163.3:c.3341C>T (SHROOM3) | XP_005263220.1:p.Pro1114Leu | |
| XM_005263164.3:c.3341C>T (SHROOM3) | XP_005263221.1:p.Pro1114Leu | |
| XM_005263165.3:c.3341C>T (SHROOM3) | XP_005263222.1:p.Pro1114Leu | |
| XM_006714282.2:c.3764C>T (SHROOM3) | XP_006714345.1:p.Pro1255Leu | |
| XM_011532157.1:c.3626C>T (SHROOM3) | XP_011530459.1:p.Pro1209Leu | |
| XM_011532158.1:c.3872C>T (SHROOM3) | XP_011530460.1:p.Pro1291Leu | |
| XM_011532159.1:c.3872C>T (SHROOM3) | XP_011530461.1:p.Pro1291Leu | |
| XM_011532160.1:c.3494C>T (SHROOM3) | XP_011530462.1:p.Pro1165Leu | |
| XM_011532161.1:c.3341C>T (SHROOM3) | XP_011530463.1:p.Pro1114Leu | |
| XR_938901.1:n.1465+3244G>A (SHROOM3-AS1) | ||
| XR_938903.1:n.1012+3697G>A (SHROOM3-AS1) | ||
| XM_005263163.4:c.3341C>T (SHROOM3) | XP_005263220.1:p.Pro1114Leu | |
| XM_005263164.4:c.3341C>T (SHROOM3) | XP_005263221.1:p.Pro1114Leu | |
| XM_005263165.5:c.3341C>T (SHROOM3) | XP_005263222.1:p.Pro1114Leu | |
| XM_011532157.2:c.3887C>T (SHROOM3) | XP_011530459.2:p.Pro1296Leu | |
| XM_011532158.3:c.3872C>T (SHROOM3) | XP_011530460.1:p.Pro1291Leu | |
| XM_011532161.2:c.3341C>T (SHROOM3) | XP_011530463.1:p.Pro1114Leu | |
| XM_017008488.1:c.3767C>T (SHROOM3) | XP_016863977.1:p.Pro1256Leu | |
| XM_017008489.1:c.3764C>T (SHROOM3) | XP_016863978.1:p.Pro1255Leu | |
| XR_001741405.1:n.393+3244G>A (SHROOM3-AS1) | ||
| XR_002959829.1:n.1514+3244G>A (SHROOM3-AS1) | ||
| XR_938903.2:n.1061+3697G>A (SHROOM3-AS1) | ||
| NM_020859.4:c.3869C>T (SHROOM3) MANE Select | NP_065910.3:p.Pro1290Leu |