Linked Data
ClinVar Variation Id:
4451
dbSNP Id:
rs113994207
ExAC:
17:3559997 G / A
gnomAD v2:
17-3559997-G-A
gnomAD v3:
17-3656703-G-A
gnomAD v4:
17-3656703-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.3656703G>A , CM000679.2:g.3656703G>A | GRCh38 |
| NC_000017.10:g.3559997G>A , CM000679.1:g.3559997G>A | GRCh37 |
| NC_000017.9:g.3506746G>A | NCBI36 |
| NG_012489.1:g.25236G>A | |
| NG_012489.2:g.25236G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000046640.9:c.589G>A (CTNS) MANE Select | ENSP00000046640.4:p.Gly197Arg | |
| ENST00000381870.8:c.589G>A (CTNS) | ENSP00000371294.3:p.Gly197Arg | |
| ENST00000488623.6:c.-165G>A (CTNS) | ENSP00000501016.1:n.-165G>A | |
| ENST00000574776.6:c.148G>A (CTNS) | ENSP00000461118.2:p.Gly50Arg | |
| ENST00000673669.1:c.148G>A (CTNS) | ENSP00000501123.1:p.Gly50Arg | |
| ENST00000673965.1:c.589G>A (CTNS) | ENSP00000500995.1:p.Gly197Arg | |
| ENST00000046640.7:c.589G>A (CTNS) | ENSP00000046640.3:p.Gly197Arg | |
| ENST00000381870.7:c.589G>A (CTNS) | ENSP00000371294.3:p.Gly197Arg | |
| NM_001031681.2:c.589G>A (CTNS) | NP_001026851.2:p.Gly197Arg | |
| NM_004937.2:c.589G>A (CTNS) | NP_004928.2:p.Gly197Arg | |
| XM_005256485.1:c.589G>A (CTNS) | XP_005256542.1:p.Gly197Arg | |
| XM_006721463.1:c.589G>A (CTNS) | XP_006721526.1:p.Gly197Arg | |
| XM_006721464.1:c.148G>A (CTNS) | XP_006721527.1:p.Gly50Arg | |
| XM_011523691.1:c.589G>A (CTNS) | XP_011521993.1:p.Gly197Arg | |
| XM_011523692.1:c.148G>A (CTNS) | XP_011521994.1:p.Gly50Arg | |
| XR_934003.1:n.1182G>A (CTNS) | ||
| XR_934158.1:n.1143+153C>T (CTNS-AS1) | ||
| XR_934159.1:n.433+153C>T (CTNS-AS1) | ||
| XR_934160.1:n.438+153C>T (CTNS-AS1) | ||
| XR_934161.1:n.433+153C>T (CTNS-AS1) | ||
| XR_934162.1:n.438+153C>T (CTNS-AS1) | ||
| XR_934163.1:n.1034+153C>T (CTNS-AS1) | ||
| XM_005256485.3:c.589G>A (CTNS) | XP_005256542.1:p.Gly197Arg | |
| XM_006721463.3:c.589G>A (CTNS) | XP_006721526.1:p.Gly197Arg | |
| XM_006721464.2:c.148G>A (CTNS) | XP_006721527.1:p.Gly50Arg | |
| XM_011523691.2:c.589G>A (CTNS) | XP_011521993.1:p.Gly197Arg | |
| XM_011523692.2:c.148G>A (CTNS) | XP_011521994.1:p.Gly50Arg | |
| XM_017024254.1:c.148G>A (CTNS) | XP_016879743.1:p.Gly50Arg | |
| XM_017024255.1:c.148G>A (CTNS) | XP_016879744.1:p.Gly50Arg | |
| XM_017024256.1:c.148G>A (CTNS) | XP_016879745.1:p.Gly50Arg | |
| XM_017024257.1:c.148G>A (CTNS) | XP_016879746.1:p.Gly50Arg | |
| XM_017024258.1:c.148G>A (CTNS) | XP_016879747.1:p.Gly50Arg | |
| XR_934158.2:n.1160+153C>T (CTNS-AS1) | ||
| XR_934159.2:n.450+153C>T (CTNS-AS1) | ||
| XR_934160.2:n.455+153C>T (CTNS-AS1) | ||
| XR_934161.2:n.450+153C>T (CTNS-AS1) | ||
| XR_934162.3:n.455+153C>T (CTNS-AS1) | ||
| XR_934163.2:n.1051+153C>T (CTNS-AS1) | ||
| NM_001374492.1:c.589G>A (CTNS) | NP_001361421.1:p.Gly197Arg | |
| NM_001374493.1:c.148G>A (CTNS) | NP_001361422.1:p.Gly50Arg | |
| NM_001374494.1:c.148G>A (CTNS) | NP_001361423.1:p.Gly50Arg | |
| NM_001374495.1:c.148G>A (CTNS) | NP_001361424.1:p.Gly50Arg | |
| NM_001374496.1:c.148G>A (CTNS) | NP_001361425.1:p.Gly50Arg | |
| NM_004937.3:c.589G>A (CTNS) MANE Select | NP_004928.2:p.Gly197Arg | |
| NM_001031681.3:c.589G>A (CTNS) | NP_001026851.2:p.Gly197Arg |