Linked Data
dbSNP Id:
rs1790733
ExAC:
11:67186000 A / G
gnomAD v2:
11-67186000-A-G
gnomAD v3:
11-67418529-A-G
gnomAD v4:
11-67418529-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67418529A>G , CM000673.2:g.67418529A>G | GRCh38 |
| NC_000011.9:g.67186000A>G , CM000673.1:g.67186000A>G | GRCh37 |
| NC_000011.8:g.66942576A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687366.1:c.364+9A>G (CARNS1) MANE Select | ENSP00000510668.1:n.364+9A>G | |
| ENST00000307823.7:c.-6+9A>G (CARNS1) | ENSP00000308268.3:n.-6+9A>G | |
| ENST00000445895.2:c.364+9A>G (CARNS1) | ENSP00000389009.2:n.364+9A>G | |
| ENST00000531040.5:c.364+9A>G (CARNS1) | ENSP00000431670.1:n.364+9A>G | |
| ENST00000531388.1:n.1572+9A>G (CARNS1) | ||
| ENST00000531958.5:n.1678+9A>G (CARNS1) | ||
| ENST00000542876.1:c.346+879T>C (PPP1CA) | ENSP00000438409.1:n.346+879T>C | |
| ENST00000546202.5:c.310+915T>C (PPP1CA) | ENSP00000439568.1:n.310+915T>C | |
| NM_001166222.1:c.364+9A>G (CARNS1) | NP_001159694.1:n.364+9A>G | |
| NM_020811.1:c.-6+9A>G (CARNS1) | NP_065862.1:n.-6+9A>G | |
| XM_011545189.1:c.364+9A>G (CARNS1) | XP_011543491.1:n.364+9A>G | |
| XM_011545190.1:c.-6+9A>G (CARNS1) | XP_011543492.1:n.-6+9A>G | |
| XM_011545191.1:c.412+9A>G (CARNS1) | XP_011543493.1:n.412+9A>G | |
| XM_011545191.2:c.412+9A>G (CARNS1) | XP_011543493.1:n.412+9A>G | |
| XM_017018054.1:c.412+9A>G (CARNS1) | XP_016873543.1:n.412+9A>G | |
| XM_017018055.2:c.323-227A>G (CARNS1) | XP_016873544.1:n.323-227A>G | |
| NM_001166222.2:c.364+9A>G (CARNS1) MANE Select | NP_001159694.1:n.364+9A>G | |
| NM_020811.2:c.-6+9A>G (CARNS1) | NP_065862.1:n.-6+9A>G | |
| NM_001394577.1:c.275-227A>G (CARNS1) | NP_001381506.1:n.275-227A>G | |
| NM_001394578.1:c.-6+9A>G (CARNS1) | NP_001381507.1:n.-6+9A>G | |
| NM_001394579.1:c.-5-227A>G (CARNS1) | NP_001381508.1:n.-5-227A>G |