Canonical Allele Identifier: CA400324399

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206304T>C , CM000679.2:g.58206304T>C	GRCh38
NC_000017.10:g.56283665T>C , CM000679.1:g.56283665T>C	GRCh37
NC_000017.9:g.53638664T>C	NCBI36
NG_013020.1:g.18577T>C
NG_013032.1:g.18302A>G , LRG_687:g.18302A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1350A>G	ENSP00000316631.6:p.Arg450=
ENST00000393119.7:c.1567A>G MANE Select	ENSP00000376827.2:p.Ser523Gly
ENST00000537529.7:c.1138A>G	ENSP00000442096.3:p.Ser380Gly
ENST00000675753.2:c.*1186A>G	ENSP00000502156.1:n.*1186A>G
ENST00000676787.1:c.1438A>G	ENSP00000503999.1:p.Ser480Gly
ENST00000677111.1:c.*1041A>G	ENSP00000504282.1:n.*1041A>G
ENST00000677160.1:n.2841A>G
ENST00000677416.1:n.2888A>G
ENST00000677486.1:c.*911A>G	ENSP00000503852.1:n.*911A>G
ENST00000677709.1:n.2267A>G
ENST00000678011.1:n.2467A>G
ENST00000678432.1:c.*1341A>G	ENSP00000504452.1:n.*1341A>G
ENST00000678463.1:c.1484A>G	ENSP00000502984.1:p.Glu495Gly
ENST00000678568.1:c.*891A>G	ENSP00000504754.1:n.*891A>G
ENST00000678641.1:c.*911A>G	ENSP00000503159.1:n.*911A>G
ENST00000678763.1:n.1882A>G
ENST00000313863.10:c.1350A>G	ENSP00000316631.6:p.Arg450=
ENST00000393119.6:c.1567A>G	ENSP00000376827.2:p.Ser523Gly
ENST00000393120.6:c.*974A>G	ENSP00000376828.2:n.*974A>G
ENST00000537529.6:c.1537A>G	ENSP00000442096.2:p.Ser513Gly
ENST00000583577.1:n.393A>G
NM_001165927.1:c.1537A>G , LRG_687t2:c.1537A>G	NP_001159399.1:p.Ser513Gly
NM_017777.3:c.1567A>G , LRG_687t1:c.1567A>G	NP_060247.2:p.Ser523Gly
XM_005257483.3:c.1484A>G	XP_005257540.1:p.Glu495Gly
XM_005257485.3:c.1055A>G	XP_005257542.1:p.Glu352Gly
XM_005257486.3:c.958A>G	XP_005257543.1:p.Ser320Gly
XM_006721965.2:c.875A>G	XP_006722028.1:p.Glu292Gly
XM_011524957.1:c.1493A>G	XP_011523259.1:p.Glu498Gly
XM_011524958.1:c.1576A>G	XP_011523260.1:p.Ser526Gly
XM_011524959.1:c.1359A>G	XP_011523261.1:p.Arg453=
NM_001321268.1:c.958A>G	NP_001308197.1:p.Ser320Gly
NM_001321269.1:c.1484A>G	NP_001308198.1:p.Glu495Gly
NM_001330397.1:c.1350A>G	NP_001317326.1:p.Arg450=
XM_005257485.4:c.1055A>G	XP_005257542.1:p.Glu352Gly
XM_006721965.3:c.875A>G	XP_006722028.1:p.Glu292Gly
XM_011524957.2:c.1493A>G	XP_011523259.1:p.Glu498Gly
XM_011524958.2:c.1576A>G	XP_011523260.1:p.Ser526Gly
XM_011524959.2:c.1359A>G	XP_011523261.1:p.Arg453=
XM_017024805.1:c.1138A>G	XP_016880294.1:p.Ser380Gly
XR_002958042.1:n.1495A>G
NM_001321268.2:c.958A>G	NP_001308197.1:p.Ser320Gly
NM_001321269.2:c.1484A>G	NP_001308198.1:p.Glu495Gly
NM_001330397.2:c.1350A>G	NP_001317326.1:p.Arg450=
NM_017777.4:c.1567A>G MANE Select	NP_060247.2:p.Ser523Gly