Canonical Allele Identifier: CA8669299

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58208577G>C , CM000679.2:g.58208577G>C	GRCh38
NC_000017.10:g.56285938G>C , CM000679.1:g.56285938G>C	GRCh37
NC_000017.9:g.53640937G>C	NCBI36
NG_013032.1:g.16029C>G , LRG_687:g.16029C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1031C>G MANE Select	NP_060247.2:p.Ser344Ter
ENST00000393119.7:c.1031C>G MANE Select	ENSP00000376827.2:p.Ser344Ter
NM_001165927.1:c.1001C>G , LRG_687t2:c.1001C>G	NP_001159399.1:p.Ser334Ter
NM_001321268.1:c.422C>G	NP_001308197.1:p.Ser141Ter
NM_001321268.2:c.422C>G	NP_001308197.1:p.Ser141Ter
NM_001321269.1:c.1031C>G	NP_001308198.1:p.Ser344Ter
NM_001321269.2:c.1031C>G	NP_001308198.1:p.Ser344Ter
NM_001330397.1:c.1031C>G	NP_001317326.1:p.Ser344Ter
NM_001330397.2:c.1031C>G	NP_001317326.1:p.Ser344Ter
NM_017777.3:c.1031C>G , LRG_687t1:c.1031C>G	NP_060247.2:p.Ser344Ter
ENST00000313863.10:c.1031C>G	ENSP00000316631.6:p.Ser344Ter
ENST00000313863.11:c.1031C>G	ENSP00000316631.6:p.Ser344Ter
ENST00000393119.6:c.1031C>G	ENSP00000376827.2:p.Ser344Ter
ENST00000393120.6:c.*438C>G	ENSP00000376828.2:n.*438C>G
ENST00000537529.6:c.1001C>G	ENSP00000442096.2:p.Ser334Ter
ENST00000537529.7:c.602C>G	ENSP00000442096.3:p.Ser201Ter
ENST00000577315.5:c.84C>G
ENST00000577824.5:c.508C>G
ENST00000579358.1:n.469C>G
ENST00000580127.6:c.1031C>G	ENSP00000462423.2:p.Ser344Ter
ENST00000585134.1:c.254C>G	ENSP00000463826.1:p.Ser85Ter
ENST00000585134.2:c.1031C>G	ENSP00000463826.2:p.Ser344Ter
ENST00000675753.2:c.*650C>G	ENSP00000502156.1:n.*650C>G
ENST00000676787.1:c.902C>G	ENSP00000503999.1:p.Ser301Ter
ENST00000677111.1:c.922C>G	ENSP00000504282.1:p.Gln308Glu
ENST00000677160.1:n.2305C>G
ENST00000677416.1:n.1056C>G
ENST00000677486.1:c.*375C>G	ENSP00000503852.1:n.*375C>G
ENST00000677709.1:n.1056C>G
ENST00000678011.1:n.1056C>G
ENST00000678432.1:c.*650C>G	ENSP00000504452.1:n.*650C>G
ENST00000678463.1:c.1031C>G	ENSP00000502984.1:p.Ser344Ter
ENST00000678568.1:c.*438C>G	ENSP00000504754.1:n.*438C>G
ENST00000678641.1:c.*375C>G	ENSP00000503159.1:n.*375C>G
ENST00000678763.1:n.809C>G
XM_005257483.3:c.1031C>G	XP_005257540.1:p.Ser344Ter
XM_005257485.3:c.602C>G	XP_005257542.1:p.Ser201Ter
XM_005257485.4:c.602C>G	XP_005257542.1:p.Ser201Ter
XM_005257486.3:c.422C>G	XP_005257543.1:p.Ser141Ter
XM_006721965.2:c.422C>G	XP_006722028.1:p.Ser141Ter
XM_006721965.3:c.422C>G	XP_006722028.1:p.Ser141Ter
XM_011524957.1:c.1040C>G	XP_011523259.1:p.Ser347Ter
XM_011524957.2:c.1040C>G	XP_011523259.1:p.Ser347Ter
XM_011524958.1:c.1040C>G	XP_011523260.1:p.Ser347Ter
XM_011524958.2:c.1040C>G	XP_011523260.1:p.Ser347Ter
XM_011524959.1:c.1040C>G	XP_011523261.1:p.Ser347Ter
XM_011524959.2:c.1040C>G	XP_011523261.1:p.Ser347Ter
XM_011524960.1:c.1040C>G	XP_011523262.1:p.Ser347Ter
XM_011524960.2:c.1040C>G	XP_011523262.1:p.Ser347Ter
XM_017024804.2:c.1031C>G	XP_016880293.1:p.Ser344Ter
XM_017024805.1:c.602C>G	XP_016880294.1:p.Ser201Ter
XR_002958042.1:n.1042C>G
XR_934494.1:n.1045C>G