Canonical Allele Identifier: CA150933

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206088C>G , CM000679.2:g.58206088C>G	GRCh38
NC_000017.10:g.56283449C>G , CM000679.1:g.56283449C>G	GRCh37
NC_000017.9:g.53638448C>G	NCBI36
NG_013020.1:g.18361C>G
NG_013032.1:g.18518G>C , LRG_687:g.18518G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*83G>C	ENSP00000316631.6:n.*83G>C
ENST00000393119.7:c.1671G>C MANE Select	ENSP00000376827.2:p.Leu557=
ENST00000537529.7:c.1242G>C	ENSP00000442096.3:p.Leu414=
ENST00000675753.2:c.*1290G>C	ENSP00000502156.1:n.*1290G>C
ENST00000676787.1:c.1542G>C	ENSP00000503999.1:p.Leu514=
ENST00000677111.1:c.*1145G>C	ENSP00000504282.1:n.*1145G>C
ENST00000677160.1:n.2945G>C
ENST00000677416.1:n.2992G>C
ENST00000677486.1:c.*1015G>C	ENSP00000503852.1:n.*1015G>C
ENST00000677709.1:n.2371G>C
ENST00000678011.1:n.2571G>C
ENST00000678432.1:c.*1445G>C	ENSP00000504452.1:n.*1445G>C
ENST00000678463.1:c.1588G>C	ENSP00000502984.1:p.Gly530Arg
ENST00000678568.1:c.*995G>C	ENSP00000504754.1:n.*995G>C
ENST00000678641.1:c.*1015G>C	ENSP00000503159.1:n.*1015G>C
ENST00000678763.1:n.1986G>C
ENST00000313863.10:c.*83G>C	ENSP00000316631.6:n.*83G>C
ENST00000393119.6:c.1671G>C	ENSP00000376827.2:p.Leu557=
ENST00000393120.6:c.*1078G>C	ENSP00000376828.2:n.*1078G>C
ENST00000537529.6:c.1641G>C	ENSP00000442096.2:p.Leu547=
ENST00000583577.1:n.497G>C
NM_001165927.1:c.1641G>C , LRG_687t2:c.1641G>C	NP_001159399.1:p.Leu547=
NM_017777.3:c.1671G>C , LRG_687t1:c.1671G>C	NP_060247.2:p.Leu557=
XM_005257483.3:c.1588G>C	XP_005257540.1:p.Gly530Arg
XM_005257485.3:c.1159G>C	XP_005257542.1:p.Gly387Arg
XM_005257486.3:c.1062G>C	XP_005257543.1:p.Leu354=
XM_006721965.2:c.979G>C	XP_006722028.1:p.Gly327Arg
XM_011524957.1:c.1597G>C	XP_011523259.1:p.Gly533Arg
XM_011524958.1:c.1680G>C	XP_011523260.1:p.Leu560=
XM_011524959.1:c.*83G>C	XP_011523261.1:n.*83G>C
NM_001321268.1:c.1062G>C	NP_001308197.1:p.Leu354=
NM_001321269.1:c.1588G>C	NP_001308198.1:p.Gly530Arg
NM_001330397.1:c.*83G>C	NP_001317326.1:n.*83G>C
XM_005257485.4:c.1159G>C	XP_005257542.1:p.Gly387Arg
XM_006721965.3:c.979G>C	XP_006722028.1:p.Gly327Arg
XM_011524957.2:c.1597G>C	XP_011523259.1:p.Gly533Arg
XM_011524958.2:c.1680G>C	XP_011523260.1:p.Leu560=
XM_011524959.2:c.*83G>C	XP_011523261.1:n.*83G>C
XM_017024805.1:c.1242G>C	XP_016880294.1:p.Leu414=
XR_002958042.1:n.1599G>C
NM_001321268.2:c.1062G>C	NP_001308197.1:p.Leu354=
NM_001321269.2:c.1588G>C	NP_001308198.1:p.Gly530Arg
NM_001330397.2:c.*83G>C	NP_001317326.1:n.*83G>C
NM_017777.4:c.1671G>C MANE Select	NP_060247.2:p.Leu557=