Canonical Allele Identifier: CA400326506

Gene: MKS1

Linked Data

• dbSNP Id: rs1286284943
• gnomAD v2: 17-56290428-T-C
• MyVariant Identifiers: chr17:g.56290428T>C (hg19) ; chr17:g.58213067T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213067T>C , CM000679.2:g.58213067T>C	GRCh38
NC_000017.10:g.56290428T>C , CM000679.1:g.56290428T>C	GRCh37
NC_000017.9:g.53645427T>C	NCBI36
NG_013032.1:g.11539A>G , LRG_687:g.11539A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.773A>G	ENSP00000316631.6:p.Gln258Arg
ENST00000393119.7:c.773A>G MANE Select	ENSP00000376827.2:p.Gln258Arg
ENST00000537529.7:c.344A>G	ENSP00000442096.3:p.Gln115Arg
ENST00000580127.6:c.773A>G	ENSP00000462423.2:p.Gln258Arg
ENST00000581761.6:c.773A>G	ENSP00000462129.2:p.Gln258Arg
ENST00000585134.2:c.773A>G	ENSP00000463826.2:p.Gln258Arg
ENST00000675753.2:c.*392A>G	ENSP00000502156.1:n.*392A>G
ENST00000676787.1:c.644A>G	ENSP00000503999.1:p.Gln215Arg
ENST00000676975.1:c.638A>G	ENSP00000503970.1:n.638A>G
ENST00000677076.1:n.2047A>G
ENST00000677111.1:c.773A>G	ENSP00000504282.1:p.Gln258Arg
ENST00000677160.1:n.2047A>G
ENST00000677416.1:n.798A>G
ENST00000677475.1:n.2724A>G
ENST00000677486.1:c.*117A>G	ENSP00000503852.1:n.*117A>G
ENST00000677546.1:c.*117A>G	ENSP00000504043.1:n.*117A>G
ENST00000677709.1:n.798A>G
ENST00000678011.1:n.798A>G
ENST00000678211.1:n.2822A>G
ENST00000678432.1:c.*392A>G	ENSP00000504452.1:n.*392A>G
ENST00000678463.1:c.773A>G	ENSP00000502984.1:p.Gln258Arg
ENST00000678481.1:n.574A>G
ENST00000678568.1:c.*180A>G	ENSP00000504754.1:n.*180A>G
ENST00000678641.1:c.*117A>G	ENSP00000503159.1:n.*117A>G
ENST00000678928.1:n.2400A>G
ENST00000679081.1:n.2789A>G
ENST00000313863.10:c.773A>G	ENSP00000316631.6:p.Gln258Arg
ENST00000393119.6:c.773A>G	ENSP00000376827.2:p.Gln258Arg
ENST00000393120.6:c.*180A>G	ENSP00000376828.2:n.*180A>G
ENST00000537529.6:c.743A>G	ENSP00000442096.2:p.Gln248Arg
ENST00000577824.5:c.250A>G
ENST00000581761.5:c.*180A>G	ENSP00000462129.1:n.*180A>G
NM_001165927.1:c.743A>G , LRG_687t2:c.743A>G	NP_001159399.1:p.Gln248Arg
NM_017777.3:c.773A>G , LRG_687t1:c.773A>G	NP_060247.2:p.Gln258Arg
XM_005257483.3:c.773A>G	XP_005257540.1:p.Gln258Arg
XM_005257485.3:c.344A>G	XP_005257542.1:p.Gln115Arg
XM_005257486.3:c.164A>G	XP_005257543.1:p.Gln55Arg
XM_006721965.2:c.164A>G	XP_006722028.1:p.Gln55Arg
XM_011524957.1:c.782A>G	XP_011523259.1:p.Gln261Arg
XM_011524958.1:c.782A>G	XP_011523260.1:p.Gln261Arg
XM_011524959.1:c.782A>G	XP_011523261.1:p.Gln261Arg
XM_011524960.1:c.782A>G	XP_011523262.1:p.Gln261Arg
XR_934494.1:n.830A>G
NM_001321268.1:c.164A>G	NP_001308197.1:p.Gln55Arg
NM_001321269.1:c.773A>G	NP_001308198.1:p.Gln258Arg
NM_001330397.1:c.773A>G	NP_001317326.1:p.Gln258Arg
XM_005257485.4:c.344A>G	XP_005257542.1:p.Gln115Arg
XM_006721965.3:c.164A>G	XP_006722028.1:p.Gln55Arg
XM_011524957.2:c.782A>G	XP_011523259.1:p.Gln261Arg
XM_011524958.2:c.782A>G	XP_011523260.1:p.Gln261Arg
XM_011524959.2:c.782A>G	XP_011523261.1:p.Gln261Arg
XM_011524960.2:c.782A>G	XP_011523262.1:p.Gln261Arg
XM_017024804.2:c.773A>G	XP_016880293.1:p.Gln258Arg
XM_017024805.1:c.344A>G	XP_016880294.1:p.Gln115Arg
XR_002958042.1:n.827A>G
NM_001321268.2:c.164A>G	NP_001308197.1:p.Gln55Arg
NM_001321269.2:c.773A>G	NP_001308198.1:p.Gln258Arg
NM_001330397.2:c.773A>G	NP_001317326.1:p.Gln258Arg
NM_017777.4:c.773A>G MANE Select	NP_060247.2:p.Gln258Arg