Linked Data
ClinVar Variation Id:
306762
dbSNP Id:
rs190337934
ExAC:
12:102122750 T / C
gnomAD v2:
12-102122750-T-C
gnomAD v3:
12-101728972-T-C
gnomAD v4:
12-101728972-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101728972T>C , CM000674.2:g.101728972T>C | GRCh38 |
| NC_000012.11:g.102122750T>C , CM000674.1:g.102122750T>C | GRCh37 |
| NC_000012.10:g.100646881T>C | NCBI36 |
| NG_021181.1:g.15498A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229266.8:c.*27T>C (CHPT1) MANE Select | ENSP00000229266.3:n.*27T>C | |
| ENST00000392924.2:c.666A>G (SYCP3) MANE Select | ENSP00000376655.1:p.Gln222= | |
| ENST00000229266.7:c.*27T>C (CHPT1) | ENSP00000229266.3:n.*27T>C | |
| ENST00000266743.6:c.666A>G (SYCP3) | ENSP00000266743.2:p.Gln222= | |
| ENST00000392924.1:c.666A>G (SYCP3) | ENSP00000376655.1:p.Gln222= | |
| ENST00000392927.7:c.666A>G (SYCP3) | ENSP00000376658.3:p.Gln222= | |
| ENST00000478139.1:n.3366A>G (SYCP3) | ||
| ENST00000478238.1:n.341A>G (SYCP3) | ||
| ENST00000546873.1:c.83-1549T>C (CHPT1) | ||
| ENST00000549128.5:c.*141T>C (CHPT1) | ENSP00000446994.1:n.*141T>C | |
| ENST00000552215.5:c.3668T>C (CHPT1) | ||
| ENST00000552351.5:c.*618T>C (CHPT1) | ENSP00000447887.1:n.*618T>C | |
| NM_001177948.1:c.666A>G (SYCP3) | NP_001171419.1:p.Gln222= | |
| NM_001177949.1:c.666A>G (SYCP3) | NP_001171420.1:p.Gln222= | |
| NM_020244.2:c.*27T>C (CHPT1) | NP_064629.2:n.*27T>C | |
| NM_153694.4:c.666A>G (SYCP3) | NP_710161.1:p.Gln222= | |
| XM_005268922.3:c.*65A>G (SYCP3) | XP_005268979.2:n.*65A>G | |
| XM_005268924.1:c.*65A>G (SYCP3) | XP_005268981.1:n.*65A>G | |
| XM_005268925.1:c.*65A>G (SYCP3) | XP_005268982.1:n.*65A>G | |
| XM_005268926.3:c.*65A>G (SYCP3) | XP_005268983.1:n.*65A>G | |
| XM_005268927.2:c.*65A>G (SYCP3) | XP_005268984.1:n.*65A>G | |
| XM_011538421.1:c.*65A>G (SYCP3) | XP_011536723.1:n.*65A>G | |
| XM_011538574.1:c.*27T>C (CHPT1) | XP_011536876.1:n.*27T>C | |
| XM_011538575.1:c.*27T>C (CHPT1) | XP_011536877.1:n.*27T>C | |
| XR_245946.1:n.1531T>C (CHPT1) | ||
| XM_005268922.5:c.*65A>G (SYCP3) | XP_005268979.3:n.*65A>G | |
| XM_005268926.4:c.*65A>G (SYCP3) | XP_005268983.1:n.*65A>G | |
| XM_011538421.3:c.*65A>G (SYCP3) | XP_011536723.2:n.*65A>G | |
| XM_017019368.2:c.906A>G (SYCP3) | XP_016874857.1:p.Gln302= | |
| XM_024448994.1:c.666A>G (SYCP3) | XP_024304762.1:p.Gln222= | |
| XM_024448995.1:c.666A>G (SYCP3) | XP_024304763.1:p.Gln222= | |
| XM_024448996.1:c.666A>G (SYCP3) | XP_024304764.1:p.Gln222= | |
| XR_001748816.1:n.1367-1549T>C (CHPT1) | ||
| XR_001748817.1:n.1367-1549T>C (CHPT1) | ||
| XR_001748818.1:n.1399T>C (CHPT1) | ||
| XR_002957362.1:n.1261T>C (CHPT1) | ||
| XR_245946.2:n.1531T>C (CHPT1) | ||
| NM_001177949.2:c.666A>G (SYCP3) MANE Select | NP_001171420.1:p.Gln222= | |
| NM_020244.3:c.*27T>C (CHPT1) MANE Select | NP_064629.2:n.*27T>C | |
| NM_001177948.2:c.666A>G (SYCP3) | NP_001171419.1:p.Gln222= | |
| NM_153694.5:c.666A>G (SYCP3) | NP_710161.1:p.Gln222= |