Canonical Allele Identifier: CA501035816
Community Standard Title: NM_017777.4(MKS1):c.456T>C (p.Pro152=)
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58214800A>G , CM000679.2:g.58214800A>G GRCh38
NC_000017.10:g.56292161A>G , CM000679.1:g.56292161A>G GRCh37
NC_000017.9:g.53647160A>G NCBI36
NG_013032.1:g.9806T>C , LRG_687:g.9806T>C

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.456T>C MANE Select NP_060247.2:p.Pro152=
ENST00000393119.7:c.456T>C MANE Select ENSP00000376827.2:p.Pro152=
NM_001165927.1:c.426T>C , LRG_687t2:c.426T>C NP_001159399.1:p.Pro142=
NM_001321268.1:c.-94-413T>C NP_001308197.1:n.-94-413T>C
NM_001321268.2:c.-94-413T>C NP_001308197.1:n.-94-413T>C
NM_001321269.1:c.456T>C NP_001308198.1:p.Pro152=
NM_001321269.2:c.456T>C NP_001308198.1:p.Pro152=
NM_001330397.1:c.456T>C NP_001317326.1:p.Pro152=
NM_001330397.2:c.456T>C NP_001317326.1:p.Pro152=
NM_017777.3:c.456T>C , LRG_687t1:c.456T>C NP_060247.2:p.Pro152=
ENST00000313863.10:c.456T>C ENSP00000316631.6:p.Pro152=
ENST00000313863.11:c.456T>C ENSP00000316631.6:p.Pro152=
ENST00000393119.6:c.456T>C ENSP00000376827.2:p.Pro152=
ENST00000393120.6:c.418-413T>C ENSP00000376828.2:n.418-413T>C
ENST00000537529.6:c.426T>C ENSP00000442096.2:p.Pro142=
ENST00000537529.7:c.27T>C ENSP00000442096.3:p.Pro9=
ENST00000578789.1:c.*199T>C ENSP00000462411.1:n.*199T>C
ENST00000580127.5:c.*75T>C ENSP00000462423.1:n.*75T>C
ENST00000580127.6:c.456T>C ENSP00000462423.2:p.Pro152=
ENST00000581761.5:c.229T>C ENSP00000462129.1:p.Phe77Leu
ENST00000581761.6:c.456T>C ENSP00000462129.2:p.Pro152=
ENST00000585134.2:c.456T>C ENSP00000463826.2:p.Pro152=
ENST00000675753.2:c.*75T>C ENSP00000502156.1:n.*75T>C
ENST00000676787.1:c.456T>C ENSP00000503999.1:p.Pro152=
ENST00000676975.1:c.321T>C ENSP00000503970.1:n.321T>C
ENST00000677076.1:n.1730T>C
ENST00000677111.1:c.456T>C ENSP00000504282.1:p.Pro152=
ENST00000677160.1:n.1730T>C
ENST00000677416.1:n.481T>C
ENST00000677475.1:n.1733T>C
ENST00000677486.1:c.262-931T>C ENSP00000503852.1:n.262-931T>C
ENST00000677546.1:c.418-931T>C ENSP00000504043.1:n.418-931T>C
ENST00000677709.1:n.481T>C
ENST00000677791.1:n.484T>C
ENST00000678011.1:n.481T>C
ENST00000678211.1:n.2152T>C
ENST00000678432.1:c.*75T>C ENSP00000504452.1:n.*75T>C
ENST00000678463.1:c.456T>C ENSP00000502984.1:p.Pro152=
ENST00000678481.1:n.446-931T>C
ENST00000678568.1:c.229T>C ENSP00000504754.1:p.Phe77Leu
ENST00000678641.1:c.418-931T>C ENSP00000503159.1:n.418-931T>C
ENST00000678928.1:n.1730T>C
ENST00000679081.1:n.1730T>C
XM_005257483.3:c.456T>C XP_005257540.1:p.Pro152=
XM_005257485.3:c.27T>C XP_005257542.1:p.Pro9=
XM_005257485.4:c.27T>C XP_005257542.1:p.Pro9=
XM_005257486.3:c.-94-413T>C XP_005257543.1:n.-94-413T>C
XM_006721965.2:c.-94-413T>C XP_006722028.1:n.-94-413T>C
XM_006721965.3:c.-94-413T>C XP_006722028.1:n.-94-413T>C
XM_011524957.1:c.465T>C XP_011523259.1:p.Pro155=
XM_011524957.2:c.465T>C XP_011523259.1:p.Pro155=
XM_011524958.1:c.465T>C XP_011523260.1:p.Pro155=
XM_011524958.2:c.465T>C XP_011523260.1:p.Pro155=
XM_011524959.1:c.465T>C XP_011523261.1:p.Pro155=
XM_011524959.2:c.465T>C XP_011523261.1:p.Pro155=
XM_011524960.1:c.465T>C XP_011523262.1:p.Pro155=
XM_011524960.2:c.465T>C XP_011523262.1:p.Pro155=
XM_017024804.2:c.456T>C XP_016880293.1:p.Pro152=
XM_017024805.1:c.27T>C XP_016880294.1:p.Pro9=
XR_002958042.1:n.510T>C
XR_934494.1:n.513T>C