Canonical Allele Identifier: CA400326486

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1725139
• ClinVar RCV Id: RCV002308198
• dbSNP Id: rs1968973786
• MyVariant Identifiers: chr17:g.56290419C>T (hg19) ; chr17:g.58213058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58213058C>T , CM000679.2:g.58213058C>T	GRCh38
NC_000017.10:g.56290419C>T , CM000679.1:g.56290419C>T	GRCh37
NC_000017.9:g.53645418C>T	NCBI36
NG_013032.1:g.11548G>A , LRG_687:g.11548G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.782G>A	ENSP00000316631.6:p.Trp261Ter
ENST00000393119.7:c.782G>A MANE Select	ENSP00000376827.2:p.Trp261Ter
ENST00000537529.7:c.353G>A	ENSP00000442096.3:p.Trp118Ter
ENST00000580127.6:c.782G>A	ENSP00000462423.2:p.Trp261Ter
ENST00000581761.6:c.782G>A	ENSP00000462129.2:p.Trp261Ter
ENST00000585134.2:c.782G>A	ENSP00000463826.2:p.Trp261Ter
ENST00000675753.2:c.*401G>A	ENSP00000502156.1:n.*401G>A
ENST00000676787.1:c.653G>A	ENSP00000503999.1:p.Trp218Ter
ENST00000676975.1:c.647G>A	ENSP00000503970.1:n.647G>A
ENST00000677076.1:n.2056G>A
ENST00000677111.1:c.782G>A	ENSP00000504282.1:p.Trp261Ter
ENST00000677160.1:n.2056G>A
ENST00000677416.1:n.807G>A
ENST00000677475.1:n.2733G>A
ENST00000677486.1:c.*126G>A	ENSP00000503852.1:n.*126G>A
ENST00000677546.1:c.*126G>A	ENSP00000504043.1:n.*126G>A
ENST00000677709.1:n.807G>A
ENST00000678011.1:n.807G>A
ENST00000678211.1:n.2831G>A
ENST00000678432.1:c.*401G>A	ENSP00000504452.1:n.*401G>A
ENST00000678463.1:c.782G>A	ENSP00000502984.1:p.Trp261Ter
ENST00000678481.1:n.583G>A
ENST00000678568.1:c.*189G>A	ENSP00000504754.1:n.*189G>A
ENST00000678641.1:c.*126G>A	ENSP00000503159.1:n.*126G>A
ENST00000678928.1:n.2409G>A
ENST00000679081.1:n.2798G>A
ENST00000313863.10:c.782G>A	ENSP00000316631.6:p.Trp261Ter
ENST00000393119.6:c.782G>A	ENSP00000376827.2:p.Trp261Ter
ENST00000393120.6:c.*189G>A	ENSP00000376828.2:n.*189G>A
ENST00000537529.6:c.752G>A	ENSP00000442096.2:p.Trp251Ter
ENST00000577824.5:c.259G>A
ENST00000581761.5:c.*189G>A	ENSP00000462129.1:n.*189G>A
ENST00000585134.1:c.5G>A	ENSP00000463826.1:p.Trp2Ter
NM_001165927.1:c.752G>A , LRG_687t2:c.752G>A	NP_001159399.1:p.Trp251Ter
NM_017777.3:c.782G>A , LRG_687t1:c.782G>A	NP_060247.2:p.Trp261Ter
XM_005257483.3:c.782G>A	XP_005257540.1:p.Trp261Ter
XM_005257485.3:c.353G>A	XP_005257542.1:p.Trp118Ter
XM_005257486.3:c.173G>A	XP_005257543.1:p.Trp58Ter
XM_006721965.2:c.173G>A	XP_006722028.1:p.Trp58Ter
XM_011524957.1:c.791G>A	XP_011523259.1:p.Trp264Ter
XM_011524958.1:c.791G>A	XP_011523260.1:p.Trp264Ter
XM_011524959.1:c.791G>A	XP_011523261.1:p.Trp264Ter
XM_011524960.1:c.791G>A	XP_011523262.1:p.Trp264Ter
XR_934494.1:n.839G>A
NM_001321268.1:c.173G>A	NP_001308197.1:p.Trp58Ter
NM_001321269.1:c.782G>A	NP_001308198.1:p.Trp261Ter
NM_001330397.1:c.782G>A	NP_001317326.1:p.Trp261Ter
XM_005257485.4:c.353G>A	XP_005257542.1:p.Trp118Ter
XM_006721965.3:c.173G>A	XP_006722028.1:p.Trp58Ter
XM_011524957.2:c.791G>A	XP_011523259.1:p.Trp264Ter
XM_011524958.2:c.791G>A	XP_011523260.1:p.Trp264Ter
XM_011524959.2:c.791G>A	XP_011523261.1:p.Trp264Ter
XM_011524960.2:c.791G>A	XP_011523262.1:p.Trp264Ter
XM_017024804.2:c.782G>A	XP_016880293.1:p.Trp261Ter
XM_017024805.1:c.353G>A	XP_016880294.1:p.Trp118Ter
XR_002958042.1:n.836G>A
NM_001321268.2:c.173G>A	NP_001308197.1:p.Trp58Ter
NM_001321269.2:c.782G>A	NP_001308198.1:p.Trp261Ter
NM_001330397.2:c.782G>A	NP_001317326.1:p.Trp261Ter
NM_017777.4:c.782G>A MANE Select	NP_060247.2:p.Trp261Ter