Canonical Allele Identifier: CA400327195
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58214783C>T , CM000679.2:g.58214783C>T GRCh38
NC_000017.10:g.56292144C>T , CM000679.1:g.56292144C>T GRCh37
NC_000017.9:g.53647143C>T NCBI36
NG_013032.1:g.9823G>A , LRG_687:g.9823G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000313863.11:c.473G>A ENSP00000316631.6:p.Arg158Gln
ENST00000393119.7:c.473G>A MANE Select ENSP00000376827.2:p.Arg158Gln
ENST00000537529.7:c.44G>A ENSP00000442096.3:p.Arg15Gln
ENST00000580127.6:c.473G>A ENSP00000462423.2:p.Arg158Gln
ENST00000581761.6:c.473G>A ENSP00000462129.2:p.Arg158Gln
ENST00000585134.2:c.473G>A ENSP00000463826.2:p.Arg158Gln
ENST00000675753.2:c.*92G>A ENSP00000502156.1:n.*92G>A
ENST00000676787.1:c.473G>A ENSP00000503999.1:p.Arg158Gln
ENST00000676975.1:c.338G>A ENSP00000503970.1:n.338G>A
ENST00000677076.1:n.1747G>A
ENST00000677111.1:c.473G>A ENSP00000504282.1:p.Arg158Gln
ENST00000677160.1:n.1747G>A
ENST00000677416.1:n.498G>A
ENST00000677475.1:n.1750G>A
ENST00000677486.1:c.262-914G>A ENSP00000503852.1:n.262-914G>A
ENST00000677546.1:c.418-914G>A ENSP00000504043.1:n.418-914G>A
ENST00000677709.1:n.498G>A
ENST00000677791.1:n.501G>A
ENST00000678011.1:n.498G>A
ENST00000678211.1:n.2169G>A
ENST00000678432.1:c.*92G>A ENSP00000504452.1:n.*92G>A
ENST00000678463.1:c.473G>A ENSP00000502984.1:p.Arg158Gln
ENST00000678481.1:n.446-914G>A
ENST00000678568.1:c.246G>A ENSP00000504754.1:p.Ala82=
ENST00000678641.1:c.418-914G>A ENSP00000503159.1:n.418-914G>A
ENST00000678928.1:n.1747G>A
ENST00000679081.1:n.1747G>A
ENST00000313863.10:c.473G>A ENSP00000316631.6:p.Arg158Gln
ENST00000393119.6:c.473G>A ENSP00000376827.2:p.Arg158Gln
ENST00000393120.6:c.418-396G>A ENSP00000376828.2:n.418-396G>A
ENST00000537529.6:c.443G>A ENSP00000442096.2:p.Arg148Gln
ENST00000578789.1:c.*216G>A ENSP00000462411.1:n.*216G>A
ENST00000580127.5:c.*92G>A ENSP00000462423.1:n.*92G>A
ENST00000581761.5:c.246G>A ENSP00000462129.1:p.Ala82=
NM_001165927.1:c.443G>A , LRG_687t2:c.443G>A NP_001159399.1:p.Arg148Gln
NM_017777.3:c.473G>A , LRG_687t1:c.473G>A NP_060247.2:p.Arg158Gln
XM_005257483.3:c.473G>A XP_005257540.1:p.Arg158Gln
XM_005257485.3:c.44G>A XP_005257542.1:p.Arg15Gln
XM_005257486.3:c.-94-396G>A XP_005257543.1:n.-94-396G>A
XM_006721965.2:c.-94-396G>A XP_006722028.1:n.-94-396G>A
XM_011524957.1:c.482G>A XP_011523259.1:p.Arg161Gln
XM_011524958.1:c.482G>A XP_011523260.1:p.Arg161Gln
XM_011524959.1:c.482G>A XP_011523261.1:p.Arg161Gln
XM_011524960.1:c.482G>A XP_011523262.1:p.Arg161Gln
XR_934494.1:n.530G>A
NM_001321268.1:c.-94-396G>A NP_001308197.1:n.-94-396G>A
NM_001321269.1:c.473G>A NP_001308198.1:p.Arg158Gln
NM_001330397.1:c.473G>A NP_001317326.1:p.Arg158Gln
XM_005257485.4:c.44G>A XP_005257542.1:p.Arg15Gln
XM_006721965.3:c.-94-396G>A XP_006722028.1:n.-94-396G>A
XM_011524957.2:c.482G>A XP_011523259.1:p.Arg161Gln
XM_011524958.2:c.482G>A XP_011523260.1:p.Arg161Gln
XM_011524959.2:c.482G>A XP_011523261.1:p.Arg161Gln
XM_011524960.2:c.482G>A XP_011523262.1:p.Arg161Gln
XM_017024804.2:c.473G>A XP_016880293.1:p.Arg158Gln
XM_017024805.1:c.44G>A XP_016880294.1:p.Arg15Gln
XR_002958042.1:n.527G>A
NM_001321268.2:c.-94-396G>A NP_001308197.1:n.-94-396G>A
NM_001321269.2:c.473G>A NP_001308198.1:p.Arg158Gln
NM_001330397.2:c.473G>A NP_001317326.1:p.Arg158Gln
NM_017777.4:c.473G>A MANE Select NP_060247.2:p.Arg158Gln