Linked Data
ClinVar Variation Id:
1582290
ClinVar RCV Id:
RCV002111156
dbSNP Id:
rs11558597
ExAC:
15:64449080 G / A
gnomAD v2:
15-64449080-G-A
gnomAD v3:
15-64156881-G-A
gnomAD v4:
15-64156881-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64156881G>A , CM000677.2:g.64156881G>A | GRCh38 |
| NC_000015.9:g.64449080G>A , CM000677.1:g.64449080G>A | GRCh37 |
| NC_000015.8:g.62236133G>A | NCBI36 |
| NG_012979.1:g.11275C>T , LRG_10:g.11275C>T | |
| NG_033071.1:g.10165G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.372C>T (PPIB) MANE Select | ENSP00000300026.4:p.Pro124= | |
| ENST00000325881.9:c.*2373G>A (SNX22) MANE Select | ENSP00000323435.4:n.*2373G>A | |
| ENST00000561048.2:n.3599C>T (PPIB) | ||
| ENST00000680158.1:c.*45C>T (PPIB) | ENSP00000504873.1:n.*45C>T | |
| ENST00000680343.1:n.326C>T (PPIB) | ||
| ENST00000681397.1:c.372C>T (PPIB) | ENSP00000506584.1:p.Pro124= | |
| ENST00000681658.1:c.267C>T (PPIB) | ENSP00000505431.1:p.Pro89= | |
| ENST00000300026.3:c.372C>T (PPIB) | ENSP00000300026.3:p.Pro124= | |
| ENST00000325881.8:c.*2373G>A (SNX22) | ENSP00000323435.4:n.*2373G>A | |
| ENST00000557789.5:n.3113G>A (SNX22) | ||
| ENST00000558492.1:n.278C>T (PPIB) | ||
| ENST00000560997.1:n.2768G>A (SNX22) | ||
| NM_000942.4:c.372C>T , LRG_10t1:c.372C>T (PPIB) | NP_000933.1:p.Pro124= | |
| NM_024798.2:c.*2373G>A (SNX22) | NP_079074.2:n.*2373G>A | |
| NR_073534.1:n.3061G>A (SNX22) | ||
| XM_017022581.1:c.*2373G>A (SNX22) | XP_016878070.1:n.*2373G>A | |
| NM_024798.3:c.*2373G>A (SNX22) MANE Select | NP_079074.2:n.*2373G>A | |
| NM_000942.5:c.372C>T (PPIB) MANE Select | NP_000933.1:p.Pro124= | |
| NR_073534.2:n.3047G>A (SNX22) |