Canonical Allele Identifier: CA2842941074

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206032T>A , CM000679.2:g.58206032T>A	GRCh38
NC_000017.10:g.56283393T>A , CM000679.1:g.56283393T>A	GRCh37
NC_000017.9:g.53638392T>A	NCBI36
NG_013020.1:g.18305T>A
NG_013032.1:g.18574A>T , LRG_687:g.18574A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*139A>T	ENSP00000316631.6:n.*139A>T
ENST00000393119.7:c.*47A>T MANE Select	ENSP00000376827.2:n.*47A>T
ENST00000537529.7:c.*47A>T	ENSP00000442096.3:n.*47A>T
ENST00000675753.2:c.*1346A>T	ENSP00000502156.1:n.*1346A>T
ENST00000676787.1:c.*47A>T	ENSP00000503999.1:n.*47A>T
ENST00000677111.1:c.*1201A>T	ENSP00000504282.1:n.*1201A>T
ENST00000677160.1:n.3001A>T
ENST00000677416.1:n.3048A>T
ENST00000677486.1:c.*1071A>T	ENSP00000503852.1:n.*1071A>T
ENST00000677709.1:n.2427A>T
ENST00000678011.1:n.2627A>T
ENST00000678432.1:c.*1501A>T	ENSP00000504452.1:n.*1501A>T
ENST00000678463.1:c.1644A>T	ENSP00000502984.1:p.Ile548=
ENST00000678568.1:c.*1051A>T	ENSP00000504754.1:n.*1051A>T
ENST00000678641.1:c.*1071A>T	ENSP00000503159.1:n.*1071A>T
ENST00000678763.1:n.2042A>T
ENST00000313863.10:c.*139A>T	ENSP00000316631.6:n.*139A>T
ENST00000393119.6:c.*47A>T	ENSP00000376827.2:n.*47A>T
ENST00000393120.6:c.*1134A>T	ENSP00000376828.2:n.*1134A>T
ENST00000537529.6:c.*47A>T	ENSP00000442096.2:n.*47A>T
ENST00000583577.1:n.553A>T
NM_001165927.1:c.*47A>T , LRG_687t2:c.*47A>T	NP_001159399.1:n.*47A>T
NM_017777.3:c.*47A>T , LRG_687t1:c.*47A>T	NP_060247.2:n.*47A>T
XM_005257483.3:c.1644A>T	XP_005257540.1:p.Ile548=
XM_005257485.3:c.1215A>T	XP_005257542.1:p.Ile405=
XM_005257486.3:c.*47A>T	XP_005257543.1:n.*47A>T
XM_006721965.2:c.1035A>T	XP_006722028.1:p.Ile345=
XM_011524957.1:c.1653A>T	XP_011523259.1:p.Ile551=
XM_011524958.1:c.*47A>T	XP_011523260.1:n.*47A>T
XM_011524959.1:c.*139A>T	XP_011523261.1:n.*139A>T
NM_001321268.1:c.*47A>T	NP_001308197.1:n.*47A>T
NM_001321269.1:c.1644A>T	NP_001308198.1:p.Ile548=
NM_001330397.1:c.*139A>T	NP_001317326.1:n.*139A>T
XM_005257485.4:c.1215A>T	XP_005257542.1:p.Ile405=
XM_006721965.3:c.1035A>T	XP_006722028.1:p.Ile345=
XM_011524957.2:c.1653A>T	XP_011523259.1:p.Ile551=
XM_011524958.2:c.*47A>T	XP_011523260.1:n.*47A>T
XM_011524959.2:c.*139A>T	XP_011523261.1:n.*139A>T
XM_017024805.1:c.*47A>T	XP_016880294.1:n.*47A>T
XR_002958042.1:n.1655A>T
NM_001321268.2:c.*47A>T	NP_001308197.1:n.*47A>T
NM_001321269.2:c.1644A>T	NP_001308198.1:p.Ile548=
NM_001330397.2:c.*139A>T	NP_001317326.1:n.*139A>T
NM_017777.4:c.*47A>T MANE Select	NP_060247.2:n.*47A>T