Linked Data
ClinVar Variation Id:
1390
dbSNP Id:
rs386834052
gnomAD v4:
17-58219149-A-G
PubMed:
PMID:16415886
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58219149A>G , CM000679.2:g.58219149A>G | GRCh38 |
| NC_000017.10:g.56296510A>G , CM000679.1:g.56296510A>G | GRCh37 |
| NC_000017.9:g.53651509A>G | NCBI36 |
| NG_013032.1:g.5457T>C , LRG_687:g.5457T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313863.11:c.80+2T>C (MKS1) | ENSP00000316631.6:n.80+2T>C | |
| ENST00000393119.7:c.80+2T>C (MKS1) MANE Select | ENSP00000376827.2:n.80+2T>C | |
| ENST00000537529.7:c.-350+313T>C (MKS1) | ENSP00000442096.3:n.-350+313T>C | |
| ENST00000580127.6:c.80+2T>C (MKS1) | ENSP00000462423.2:n.80+2T>C | |
| ENST00000581180.2:c.80+2T>C (MKS1) | ENSP00000502288.1:n.80+2T>C | |
| ENST00000581761.6:c.80+2T>C (MKS1) | ENSP00000462129.2:n.80+2T>C | |
| ENST00000585134.2:c.80+2T>C (MKS1) | ENSP00000463826.2:n.80+2T>C | |
| ENST00000675753.2:c.80+2T>C (MKS1) | ENSP00000502156.1:n.80+2T>C | |
| ENST00000676787.1:c.80+2T>C (MKS1) | ENSP00000503999.1:n.80+2T>C | |
| ENST00000677076.1:n.105+2T>C (MKS1) | ||
| ENST00000677111.1:c.80+2T>C (MKS1) | ENSP00000504282.1:n.80+2T>C | |
| ENST00000677160.1:n.105+2T>C (MKS1) | ||
| ENST00000677416.1:n.105+2T>C (MKS1) | ||
| ENST00000677475.1:n.107T>C (MKS1) | ||
| ENST00000677486.1:c.80+2T>C (MKS1) | ENSP00000503852.1:n.80+2T>C | |
| ENST00000677546.1:c.80+2T>C (MKS1) | ENSP00000504043.1:n.80+2T>C | |
| ENST00000677709.1:n.105+2T>C (MKS1) | ||
| ENST00000677791.1:n.107T>C (MKS1) | ||
| ENST00000678011.1:n.105+2T>C (MKS1) | ||
| ENST00000678211.1:n.105+2T>C (MKS1) | ||
| ENST00000678432.1:c.80+2T>C (MKS1) | ENSP00000504452.1:n.80+2T>C | |
| ENST00000678463.1:c.80+2T>C (MKS1) | ENSP00000502984.1:n.80+2T>C | |
| ENST00000678481.1:n.107T>C (MKS1) | ||
| ENST00000678568.1:c.80+2T>C (MKS1) | ENSP00000504754.1:n.80+2T>C | |
| ENST00000678641.1:c.80+2T>C (MKS1) | ENSP00000503159.1:n.80+2T>C | |
| ENST00000678928.1:n.105+2T>C (MKS1) | ||
| ENST00000679081.1:n.105+2T>C (MKS1) | ||
| ENST00000313863.10:c.80+2T>C (MKS1) | ENSP00000316631.6:n.80+2T>C | |
| ENST00000393119.6:c.80+2T>C (MKS1) | ENSP00000376827.2:n.80+2T>C | |
| ENST00000393120.6:c.80+2T>C (MKS1) | ENSP00000376828.2:n.80+2T>C | |
| ENST00000537529.6:c.50+313T>C (MKS1) | ENSP00000442096.2:n.50+313T>C | |
| ENST00000578789.1:c.80+2T>C (MKS1) | ENSP00000462411.1:n.80+2T>C | |
| ENST00000580127.5:c.80+2T>C (MKS1) | ENSP00000462423.1:n.80+2T>C | |
| ENST00000581180.1:n.80+2T>C (MKS1) | ||
| ENST00000581761.5:c.80+2T>C (MKS1) | ENSP00000462129.1:n.80+2T>C | |
| ENST00000582328.5:c.-289+332A>G (LPO) | ENSP00000464636.1:n.-289+332A>G | |
| NM_001165927.1:c.50+313T>C , LRG_687t2:c.50+313T>C (MKS1) | NP_001159399.1:n.50+313T>C | |
| NM_017777.3:c.80+2T>C , LRG_687t1:c.80+2T>C (MKS1) | NP_060247.2:n.80+2T>C | |
| XM_005257483.3:c.80+2T>C (MKS1) | XP_005257540.1:n.80+2T>C | |
| XM_005257485.3:c.-410+2T>C (MKS1) | XP_005257542.1:n.-410+2T>C | |
| XM_005257486.3:c.-432+2T>C (MKS1) | XP_005257543.1:n.-432+2T>C | |
| XM_006721965.2:c.-432+2T>C (MKS1) | XP_006722028.1:n.-432+2T>C | |
| XM_011524957.1:c.80+2T>C (MKS1) | XP_011523259.1:n.80+2T>C | |
| XM_011524958.1:c.80+2T>C (MKS1) | XP_011523260.1:n.80+2T>C | |
| XM_011524959.1:c.80+2T>C (MKS1) | XP_011523261.1:n.80+2T>C | |
| XM_011524960.1:c.80+2T>C (MKS1) | XP_011523262.1:n.80+2T>C | |
| XR_934494.1:n.128+2T>C (MKS1) | ||
| NM_001321268.1:c.-432+2T>C (MKS1) | NP_001308197.1:n.-432+2T>C | |
| NM_001321269.1:c.80+2T>C (MKS1) | NP_001308198.1:n.80+2T>C | |
| NM_001330397.1:c.80+2T>C (MKS1) | NP_001317326.1:n.80+2T>C | |
| XM_005257485.4:c.-410+2T>C (MKS1) | XP_005257542.1:n.-410+2T>C | |
| XM_006721965.3:c.-432+2T>C (MKS1) | XP_006722028.1:n.-432+2T>C | |
| XM_011524957.2:c.80+2T>C (MKS1) | XP_011523259.1:n.80+2T>C | |
| XM_011524958.2:c.80+2T>C (MKS1) | XP_011523260.1:n.80+2T>C | |
| XM_011524959.2:c.80+2T>C (MKS1) | XP_011523261.1:n.80+2T>C | |
| XM_011524960.2:c.80+2T>C (MKS1) | XP_011523262.1:n.80+2T>C | |
| XM_017024804.2:c.80+2T>C (MKS1) | XP_016880293.1:n.80+2T>C | |
| XM_017024805.1:c.-410+2T>C (MKS1) | XP_016880294.1:n.-410+2T>C | |
| XR_002958042.1:n.125+2T>C (MKS1) | ||
| NM_001321268.2:c.-432+2T>C (MKS1) | NP_001308197.1:n.-432+2T>C | |
| NM_001321269.2:c.80+2T>C (MKS1) | NP_001308198.1:n.80+2T>C | |
| NM_001330397.2:c.80+2T>C (MKS1) | NP_001317326.1:n.80+2T>C | |
| NM_017777.4:c.80+2T>C (MKS1) MANE Select | NP_060247.2:n.80+2T>C |