Linked Data
ClinVar Variation Id:
323722
dbSNP Id:
rs567899904
gnomAD v2:
17-44105107-T-C
gnomAD v3:
17-46027741-T-C
gnomAD v4:
17-46027741-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46027741T>C , CM000679.2:g.46027741T>C | GRCh38 |
| NC_000017.10:g.44105107T>C , CM000679.1:g.44105107T>C | GRCh37 |
| NC_000017.9:g.41460954T>C | NCBI36 |
| NG_007398.1:g.138331T>C | |
| NG_007398.2:g.138279T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262410.10:c.*3570T>C (MAPT) MANE Select | ENSP00000262410.6:n.*3570T>C | |
| ENST00000351559.10:c.*3570T>C (MAPT) | ENSP00000303214.7:n.*3570T>C | |
| ENST00000262410.9:c.*3570T>C (MAPT) | ENSP00000262410.5:n.*3570T>C | |
| ENST00000340799.9:c.*3570T>C (MAPT) | ENSP00000340438.5:n.*3570T>C | |
| ENST00000344290.9:c.*3570T>C (MAPT) | ENSP00000340820.5:n.*3570T>C | |
| ENST00000351559.9:c.*3570T>C (MAPT) | ENSP00000303214.7:n.*3570T>C | |
| ENST00000446361.7:c.*3570T>C (MAPT) | ENSP00000408975.3:n.*3570T>C | |
| ENST00000535772.5:c.*3570T>C (MAPT) | ENSP00000443028.1:n.*3570T>C | |
| NM_001123066.3:c.*3570T>C (MAPT) | NP_001116538.2:n.*3570T>C | |
| NM_001123067.3:c.*3570T>C (MAPT) | NP_001116539.1:n.*3570T>C | |
| NM_001203251.1:c.*3570T>C (MAPT) | NP_001190180.1:n.*3570T>C | |
| NM_001203252.1:c.*3570T>C (MAPT) | NP_001190181.1:n.*3570T>C | |
| NM_005910.5:c.*3570T>C (MAPT) | NP_005901.2:n.*3570T>C | |
| NM_016834.4:c.*3570T>C (MAPT) | NP_058518.1:n.*3570T>C | |
| NM_016835.4:c.*3570T>C (MAPT) | NP_058519.3:n.*3570T>C | |
| NM_016841.4:c.*3570T>C (MAPT) | NP_058525.1:n.*3570T>C | |
| XM_005257362.4:c.*3570T>C (MAPT) | XP_005257419.1:n.*3570T>C | |
| XM_005257364.4:c.*3570T>C (MAPT) | XP_005257421.1:n.*3570T>C | |
| XM_005257365.4:c.*3570T>C (MAPT) | XP_005257422.1:n.*3570T>C | |
| XM_005257366.3:c.*3570T>C (MAPT) | XP_005257423.1:n.*3570T>C | |
| XM_005257367.4:c.*3570T>C (MAPT) | XP_005257424.1:n.*3570T>C | |
| XM_005257368.4:c.*3570T>C (MAPT) | XP_005257425.1:n.*3570T>C | |
| XM_005257369.4:c.*3570T>C (MAPT) | XP_005257426.1:n.*3570T>C | |
| XM_005257370.4:c.*3570T>C (MAPT) | XP_005257427.1:n.*3570T>C | |
| XM_005257371.4:c.*3570T>C (MAPT) | XP_005257428.1:n.*3570T>C | |
| XM_006721824.4:c.*3735A>G (KANSL1) | XP_006721887.1:n.*3735A>G | |
| XM_011524628.3:c.*3735A>G (KANSL1) | XP_011522930.1:n.*3735A>G | |
| XM_011524630.3:c.*3735A>G (KANSL1) | XP_011522932.1:n.*3735A>G | |
| XM_011524631.3:c.*3735A>G (KANSL1) | XP_011522933.1:n.*3735A>G | |
| XM_017024488.2:c.*3735A>G (KANSL1) | XP_016879977.1:n.*3735A>G | |
| NM_001203251.2:c.*3570T>C (MAPT) | NP_001190180.1:n.*3570T>C | |
| NM_001377265.1:c.*3570T>C (MAPT) MANE Select | NP_001364194.1:n.*3570T>C | |
| NM_001377266.1:c.*3570T>C (MAPT) | NP_001364195.1:n.*3570T>C | |
| NM_001377267.1:c.*2553T>C (MAPT) | NP_001364196.1:n.*2553T>C | |
| NM_001377268.1:c.*3570T>C (MAPT) | NP_001364197.1:n.*3570T>C | |
| NM_016834.5:c.*3570T>C (MAPT) | NP_058518.1:n.*3570T>C | |
| NM_016841.5:c.*3570T>C (MAPT) | NP_058525.1:n.*3570T>C | |
| NR_165166.1:n.4727T>C (MAPT) | ||
| NM_001123066.4:c.*3570T>C (MAPT) | NP_001116538.2:n.*3570T>C | |
| NM_001123067.4:c.*3570T>C (MAPT) | NP_001116539.1:n.*3570T>C | |
| NM_001203252.2:c.*3570T>C (MAPT) | NP_001190181.1:n.*3570T>C | |
| NM_005910.6:c.*3570T>C (MAPT) | NP_005901.2:n.*3570T>C | |
| NM_016835.5:c.*3570T>C (MAPT) | NP_058519.3:n.*3570T>C |