Canonical Allele Identifier: CA8669092

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206342C>T , CM000679.2:g.58206342C>T	GRCh38
NC_000017.10:g.56283703C>T , CM000679.1:g.56283703C>T	GRCh37
NC_000017.9:g.53638702C>T	NCBI36
NG_013020.1:g.18615C>T
NG_013032.1:g.18264G>A , LRG_687:g.18264G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1312G>A	ENSP00000316631.6:p.Gly438Arg
ENST00000393119.7:c.1529G>A MANE Select	ENSP00000376827.2:p.Arg510Gln
ENST00000537529.7:c.1100G>A	ENSP00000442096.3:p.Arg367Gln
ENST00000675753.2:c.*1148G>A	ENSP00000502156.1:n.*1148G>A
ENST00000676787.1:c.1400G>A	ENSP00000503999.1:p.Arg467Gln
ENST00000677111.1:c.*1003G>A	ENSP00000504282.1:n.*1003G>A
ENST00000677160.1:n.2803G>A
ENST00000677416.1:n.2850G>A
ENST00000677486.1:c.*873G>A	ENSP00000503852.1:n.*873G>A
ENST00000677709.1:n.2229G>A
ENST00000678011.1:n.2429G>A
ENST00000678432.1:c.*1303G>A	ENSP00000504452.1:n.*1303G>A
ENST00000678463.1:c.1446G>A	ENSP00000502984.1:p.Ala482=
ENST00000678568.1:c.*853G>A	ENSP00000504754.1:n.*853G>A
ENST00000678641.1:c.*873G>A	ENSP00000503159.1:n.*873G>A
ENST00000678763.1:n.1844G>A
ENST00000313863.10:c.1312G>A	ENSP00000316631.6:p.Gly438Arg
ENST00000393119.6:c.1529G>A	ENSP00000376827.2:p.Arg510Gln
ENST00000393120.6:c.*936G>A	ENSP00000376828.2:n.*936G>A
ENST00000537529.6:c.1499G>A	ENSP00000442096.2:p.Arg500Gln
ENST00000583577.1:n.355G>A
NM_001165927.1:c.1499G>A , LRG_687t2:c.1499G>A	NP_001159399.1:p.Arg500Gln
NM_017777.3:c.1529G>A , LRG_687t1:c.1529G>A	NP_060247.2:p.Arg510Gln
XM_005257483.3:c.1446G>A	XP_005257540.1:p.Ala482=
XM_005257485.3:c.1017G>A	XP_005257542.1:p.Ala339=
XM_005257486.3:c.920G>A	XP_005257543.1:p.Arg307Gln
XM_006721965.2:c.837G>A	XP_006722028.1:p.Ala279=
XM_011524957.1:c.1455G>A	XP_011523259.1:p.Ala485=
XM_011524958.1:c.1538G>A	XP_011523260.1:p.Arg513Gln
XM_011524959.1:c.1321G>A	XP_011523261.1:p.Gly441Arg
NM_001321268.1:c.920G>A	NP_001308197.1:p.Arg307Gln
NM_001321269.1:c.1446G>A	NP_001308198.1:p.Ala482=
NM_001330397.1:c.1312G>A	NP_001317326.1:p.Gly438Arg
XM_005257485.4:c.1017G>A	XP_005257542.1:p.Ala339=
XM_006721965.3:c.837G>A	XP_006722028.1:p.Ala279=
XM_011524957.2:c.1455G>A	XP_011523259.1:p.Ala485=
XM_011524958.2:c.1538G>A	XP_011523260.1:p.Arg513Gln
XM_011524959.2:c.1321G>A	XP_011523261.1:p.Gly441Arg
XM_017024805.1:c.1100G>A	XP_016880294.1:p.Arg367Gln
XR_002958042.1:n.1457G>A
NM_001321268.2:c.920G>A	NP_001308197.1:p.Arg307Gln
NM_001321269.2:c.1446G>A	NP_001308198.1:p.Ala482=
NM_001330397.2:c.1312G>A	NP_001317326.1:p.Gly438Arg
NM_017777.4:c.1529G>A MANE Select	NP_060247.2:p.Arg510Gln