Canonical Allele Identifier: CA8669438

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213786G>A , CM000679.2:g.58213786G>A	GRCh38
NC_000017.10:g.56291147G>A , CM000679.1:g.56291147G>A	GRCh37
NC_000017.9:g.53646146G>A	NCBI36
NG_013032.1:g.10820C>T , LRG_687:g.10820C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.728C>T	ENSP00000316631.6:p.Thr243Met
ENST00000393119.7:c.728C>T MANE Select	ENSP00000376827.2:p.Thr243Met
ENST00000537529.7:c.299C>T	ENSP00000442096.3:p.Thr100Met
ENST00000580127.6:c.728C>T	ENSP00000462423.2:p.Thr243Met
ENST00000581761.6:c.728C>T	ENSP00000462129.2:p.Thr243Met
ENST00000585134.2:c.728C>T	ENSP00000463826.2:p.Thr243Met
ENST00000675753.2:c.*347C>T	ENSP00000502156.1:n.*347C>T
ENST00000676787.1:c.599C>T	ENSP00000503999.1:p.Thr200Met
ENST00000676975.1:c.593C>T	ENSP00000503970.1:n.593C>T
ENST00000677076.1:n.2002C>T
ENST00000677111.1:c.728C>T	ENSP00000504282.1:p.Thr243Met
ENST00000677160.1:n.2002C>T
ENST00000677416.1:n.753C>T
ENST00000677475.1:n.2005C>T
ENST00000677486.1:c.*72C>T	ENSP00000503852.1:n.*72C>T
ENST00000677546.1:c.*72C>T	ENSP00000504043.1:n.*72C>T
ENST00000677709.1:n.753C>T
ENST00000678011.1:n.753C>T
ENST00000678211.1:n.2777C>T
ENST00000678432.1:c.*347C>T	ENSP00000504452.1:n.*347C>T
ENST00000678463.1:c.728C>T	ENSP00000502984.1:p.Thr243Met
ENST00000678481.1:n.529C>T
ENST00000678568.1:c.*135C>T	ENSP00000504754.1:n.*135C>T
ENST00000678641.1:c.*72C>T	ENSP00000503159.1:n.*72C>T
ENST00000678928.1:n.2355C>T
ENST00000679081.1:n.2744C>T
ENST00000313863.10:c.728C>T	ENSP00000316631.6:p.Thr243Met
ENST00000393119.6:c.728C>T	ENSP00000376827.2:p.Thr243Met
ENST00000393120.6:c.*135C>T	ENSP00000376828.2:n.*135C>T
ENST00000537529.6:c.698C>T	ENSP00000442096.2:p.Thr233Met
ENST00000577824.5:c.205C>T
ENST00000581761.5:c.*135C>T	ENSP00000462129.1:n.*135C>T
NM_001165927.1:c.698C>T , LRG_687t2:c.698C>T	NP_001159399.1:p.Thr233Met
NM_017777.3:c.728C>T , LRG_687t1:c.728C>T	NP_060247.2:p.Thr243Met
XM_005257483.3:c.728C>T	XP_005257540.1:p.Thr243Met
XM_005257485.3:c.299C>T	XP_005257542.1:p.Thr100Met
XM_005257486.3:c.119C>T	XP_005257543.1:p.Thr40Met
XM_006721965.2:c.119C>T	XP_006722028.1:p.Thr40Met
XM_011524957.1:c.737C>T	XP_011523259.1:p.Thr246Met
XM_011524958.1:c.737C>T	XP_011523260.1:p.Thr246Met
XM_011524959.1:c.737C>T	XP_011523261.1:p.Thr246Met
XM_011524960.1:c.737C>T	XP_011523262.1:p.Thr246Met
XR_934494.1:n.785C>T
NM_001321268.1:c.119C>T	NP_001308197.1:p.Thr40Met
NM_001321269.1:c.728C>T	NP_001308198.1:p.Thr243Met
NM_001330397.1:c.728C>T	NP_001317326.1:p.Thr243Met
XM_005257485.4:c.299C>T	XP_005257542.1:p.Thr100Met
XM_006721965.3:c.119C>T	XP_006722028.1:p.Thr40Met
XM_011524957.2:c.737C>T	XP_011523259.1:p.Thr246Met
XM_011524958.2:c.737C>T	XP_011523260.1:p.Thr246Met
XM_011524959.2:c.737C>T	XP_011523261.1:p.Thr246Met
XM_011524960.2:c.737C>T	XP_011523262.1:p.Thr246Met
XM_017024804.2:c.728C>T	XP_016880293.1:p.Thr243Met
XM_017024805.1:c.299C>T	XP_016880294.1:p.Thr100Met
XR_002958042.1:n.782C>T
NM_001321268.2:c.119C>T	NP_001308197.1:p.Thr40Met
NM_001321269.2:c.728C>T	NP_001308198.1:p.Thr243Met
NM_001330397.2:c.728C>T	NP_001317326.1:p.Thr243Met
NM_017777.4:c.728C>T MANE Select	NP_060247.2:p.Thr243Met