Canonical Allele Identifier: CA400325630
Community Standard Title: NM_017777.4(MKS1):c.1156G>T (p.Glu386Ter)
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58208114C>A , CM000679.2:g.58208114C>A GRCh38
NC_000017.10:g.56285475C>A , CM000679.1:g.56285475C>A GRCh37
NC_000017.9:g.53640474C>A NCBI36
NG_013032.1:g.16492G>T , LRG_687:g.16492G>T

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.1156G>T MANE Select NP_060247.2:p.Glu386Ter
ENST00000393119.7:c.1156G>T MANE Select ENSP00000376827.2:p.Glu386Ter
NM_001165927.1:c.1126G>T , LRG_687t2:c.1126G>T NP_001159399.1:p.Glu376Ter
NM_001321268.1:c.547G>T NP_001308197.1:p.Glu183Ter
NM_001321268.2:c.547G>T NP_001308197.1:p.Glu183Ter
NM_001321269.1:c.1156G>T NP_001308198.1:p.Glu386Ter
NM_001321269.2:c.1156G>T NP_001308198.1:p.Glu386Ter
NM_001330397.1:c.1156G>T NP_001317326.1:p.Glu386Ter
NM_001330397.2:c.1156G>T NP_001317326.1:p.Glu386Ter
NM_017777.3:c.1156G>T , LRG_687t1:c.1156G>T NP_060247.2:p.Glu386Ter
ENST00000313863.10:c.1156G>T ENSP00000316631.6:p.Glu386Ter
ENST00000313863.11:c.1156G>T ENSP00000316631.6:p.Glu386Ter
ENST00000393119.6:c.1156G>T ENSP00000376827.2:p.Glu386Ter
ENST00000393120.6:c.*563G>T ENSP00000376828.2:n.*563G>T
ENST00000537529.6:c.1126G>T ENSP00000442096.2:p.Glu376Ter
ENST00000537529.7:c.727G>T ENSP00000442096.3:p.Glu243Ter
ENST00000577315.5:c.209G>T
ENST00000577824.5:c.709G>T
ENST00000580127.6:c.1156G>T ENSP00000462423.2:p.Glu386Ter
ENST00000585134.1:c.379G>T ENSP00000463826.1:p.Glu127Ter
ENST00000585134.2:c.1156G>T ENSP00000463826.2:p.Glu386Ter
ENST00000675753.2:c.*775G>T ENSP00000502156.1:n.*775G>T
ENST00000676787.1:c.1027G>T ENSP00000503999.1:p.Glu343Ter
ENST00000677111.1:c.*93G>T ENSP00000504282.1:n.*93G>T
ENST00000677160.1:n.2430G>T
ENST00000677416.1:n.1181G>T
ENST00000677486.1:c.*500G>T ENSP00000503852.1:n.*500G>T
ENST00000677709.1:n.1181G>T
ENST00000678011.1:n.1519G>T
ENST00000678432.1:c.*775G>T ENSP00000504452.1:n.*775G>T
ENST00000678463.1:c.1156G>T ENSP00000502984.1:p.Glu386Ter
ENST00000678568.1:c.*563G>T ENSP00000504754.1:n.*563G>T
ENST00000678641.1:c.*500G>T ENSP00000503159.1:n.*500G>T
ENST00000678763.1:n.934G>T
XM_005257483.3:c.1156G>T XP_005257540.1:p.Glu386Ter
XM_005257485.3:c.727G>T XP_005257542.1:p.Glu243Ter
XM_005257485.4:c.727G>T XP_005257542.1:p.Glu243Ter
XM_005257486.3:c.547G>T XP_005257543.1:p.Glu183Ter
XM_006721965.2:c.547G>T XP_006722028.1:p.Glu183Ter
XM_006721965.3:c.547G>T XP_006722028.1:p.Glu183Ter
XM_011524957.1:c.1165G>T XP_011523259.1:p.Glu389Ter
XM_011524957.2:c.1165G>T XP_011523259.1:p.Glu389Ter
XM_011524958.1:c.1165G>T XP_011523260.1:p.Glu389Ter
XM_011524958.2:c.1165G>T XP_011523260.1:p.Glu389Ter
XM_011524959.1:c.1165G>T XP_011523261.1:p.Glu389Ter
XM_011524959.2:c.1165G>T XP_011523261.1:p.Glu389Ter
XM_011524960.1:c.1165G>T XP_011523262.1:p.Glu389Ter
XM_011524960.2:c.1165G>T XP_011523262.1:p.Glu389Ter
XM_017024804.2:c.1156G>T XP_016880293.1:p.Glu386Ter
XM_017024805.1:c.727G>T XP_016880294.1:p.Glu243Ter
XR_002958042.1:n.1167G>T
XR_934494.1:n.1170G>T