Canonical Allele Identifier: CA8669060

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206152C>T , CM000679.2:g.58206152C>T	GRCh38
NC_000017.10:g.56283513C>T , CM000679.1:g.56283513C>T	GRCh37
NC_000017.9:g.53638512C>T	NCBI36
NG_013020.1:g.18425C>T
NG_013032.1:g.18454G>A , LRG_687:g.18454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*19G>A	ENSP00000316631.6:n.*19G>A
ENST00000393119.7:c.1607G>A MANE Select	ENSP00000376827.2:p.Arg536Gln
ENST00000537529.7:c.1178G>A	ENSP00000442096.3:p.Arg393Gln
ENST00000675753.2:c.*1226G>A	ENSP00000502156.1:n.*1226G>A
ENST00000676787.1:c.1478G>A	ENSP00000503999.1:p.Arg493Gln
ENST00000677111.1:c.*1081G>A	ENSP00000504282.1:n.*1081G>A
ENST00000677160.1:n.2881G>A
ENST00000677416.1:n.2928G>A
ENST00000677486.1:c.*951G>A	ENSP00000503852.1:n.*951G>A
ENST00000677709.1:n.2307G>A
ENST00000678011.1:n.2507G>A
ENST00000678432.1:c.*1381G>A	ENSP00000504452.1:n.*1381G>A
ENST00000678463.1:c.1524G>A	ENSP00000502984.1:p.Pro508=
ENST00000678568.1:c.*931G>A	ENSP00000504754.1:n.*931G>A
ENST00000678641.1:c.*951G>A	ENSP00000503159.1:n.*951G>A
ENST00000678763.1:n.1922G>A
ENST00000313863.10:c.*19G>A	ENSP00000316631.6:n.*19G>A
ENST00000393119.6:c.1607G>A	ENSP00000376827.2:p.Arg536Gln
ENST00000393120.6:c.*1014G>A	ENSP00000376828.2:n.*1014G>A
ENST00000537529.6:c.1577G>A	ENSP00000442096.2:p.Arg526Gln
ENST00000583577.1:n.433G>A
NM_001165927.1:c.1577G>A , LRG_687t2:c.1577G>A	NP_001159399.1:p.Arg526Gln
NM_017777.3:c.1607G>A , LRG_687t1:c.1607G>A	NP_060247.2:p.Arg536Gln
XM_005257483.3:c.1524G>A	XP_005257540.1:p.Pro508=
XM_005257485.3:c.1095G>A	XP_005257542.1:p.Pro365=
XM_005257486.3:c.998G>A	XP_005257543.1:p.Arg333Gln
XM_006721965.2:c.915G>A	XP_006722028.1:p.Pro305=
XM_011524957.1:c.1533G>A	XP_011523259.1:p.Pro511=
XM_011524958.1:c.1616G>A	XP_011523260.1:p.Arg539Gln
XM_011524959.1:c.*19G>A	XP_011523261.1:n.*19G>A
NM_001321268.1:c.998G>A	NP_001308197.1:p.Arg333Gln
NM_001321269.1:c.1524G>A	NP_001308198.1:p.Pro508=
NM_001330397.1:c.*19G>A	NP_001317326.1:n.*19G>A
XM_005257485.4:c.1095G>A	XP_005257542.1:p.Pro365=
XM_006721965.3:c.915G>A	XP_006722028.1:p.Pro305=
XM_011524957.2:c.1533G>A	XP_011523259.1:p.Pro511=
XM_011524958.2:c.1616G>A	XP_011523260.1:p.Arg539Gln
XM_011524959.2:c.*19G>A	XP_011523261.1:n.*19G>A
XM_017024805.1:c.1178G>A	XP_016880294.1:p.Arg393Gln
XR_002958042.1:n.1535G>A
NM_001321268.2:c.998G>A	NP_001308197.1:p.Arg333Gln
NM_001321269.2:c.1524G>A	NP_001308198.1:p.Pro508=
NM_001330397.2:c.*19G>A	NP_001317326.1:n.*19G>A
NM_017777.4:c.1607G>A MANE Select	NP_060247.2:p.Arg536Gln