Linked Data
ClinVar Variation Id:
313307
dbSNP Id:
rs777479928
ExAC:
14:51099003 T / G
gnomAD v2:
14-51099003-T-G
gnomAD v3:
14-50632285-T-G
gnomAD v4:
14-50632285-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50632285T>G , CM000676.2:g.50632285T>G | GRCh38 |
| NC_000014.8:g.51099003T>G , CM000676.1:g.51099003T>G | GRCh37 |
| NC_000014.7:g.50168753T>G | NCBI36 |
| NG_009028.1:g.104204T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1608T>G (ATL1) | ENSP00000450989.2:p.Ala536= | |
| ENST00000556478.3:c.1608T>G (ATL1) | ENSP00000501428.2:p.Ala536= | |
| ENST00000682037.1:c.1667T>G (ATL1) | ENSP00000508289.1:p.Leu556Arg | |
| ENST00000682219.1:n.2946T>G (ATL1) | ||
| ENST00000683037.1:n.1529T>G (ATL1) | ||
| ENST00000683315.1:n.449T>G (ATL1) | ||
| ENST00000358385.12:c.1623T>G (ATL1) MANE Select | ENSP00000351155.7:p.Ala541= | |
| ENST00000674288.1:c.*2900T>G (ATL1) | ENSP00000501522.1:n.*2900T>G | |
| ENST00000358385.10:c.1623T>G (ATL1) | ENSP00000351155.6:p.Ala541= | |
| ENST00000441560.6:c.1608T>G (ATL1) | ENSP00000413675.2:p.Ala536= | |
| ENST00000555720.5:c.2807A>C (SAV1) | ENSP00000451492.1:n.2807A>C | |
| ENST00000556067.1:c.515T>G (ATL1) | ENSP00000451100.1:n.515T>G | |
| NM_001127713.1:c.1608T>G (ATL1) | NP_001121185.1:p.Ala536= | |
| NM_015915.4:c.1623T>G (ATL1) | NP_056999.2:p.Ala541= | |
| NM_181598.3:c.1608T>G (ATL1) | NP_853629.2:p.Ala536= | |
| NM_015915.5:c.1623T>G (ATL1) MANE Select | NP_056999.2:p.Ala541= | |
| NM_181598.4:c.1608T>G (ATL1) | NP_853629.2:p.Ala536= |