Canonical Allele Identifier: CA8669069

Gene: MKS1

Linked Data

• ClinVar Variation Id: 598531
• ClinVar RCV Id: RCV000734943 ; RCV002535404 ; RCV003279041
• dbSNP Id: rs767250536
• ExAC: 17:56283530 C / A
• gnomAD v2: 17-56283530-C-A
• gnomAD v3: 17-58206169-C-A
• gnomAD v4: 17-58206169-C-A
• MyVariant Identifiers: chr17:g.56283530C>A (hg19) ; chr17:g.58206169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206169C>A , CM000679.2:g.58206169C>A	GRCh38
NC_000017.10:g.56283530C>A , CM000679.1:g.56283530C>A	GRCh37
NC_000017.9:g.53638529C>A	NCBI36
NG_013020.1:g.18442C>A
NG_013032.1:g.18437G>T , LRG_687:g.18437G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313863.11:c.*2G>T	ENSP00000316631.6:n.*2G>T
ENST00000393119.7:c.1590G>T MANE Select	ENSP00000376827.2:p.Glu530Asp
ENST00000537529.7:c.1161G>T	ENSP00000442096.3:p.Glu387Asp
ENST00000675753.2:c.*1209G>T	ENSP00000502156.1:n.*1209G>T
ENST00000676787.1:c.1461G>T	ENSP00000503999.1:p.Glu487Asp
ENST00000677111.1:c.*1064G>T	ENSP00000504282.1:n.*1064G>T
ENST00000677160.1:n.2864G>T
ENST00000677416.1:n.2911G>T
ENST00000677486.1:c.*934G>T	ENSP00000503852.1:n.*934G>T
ENST00000677709.1:n.2290G>T
ENST00000678011.1:n.2490G>T
ENST00000678432.1:c.*1364G>T	ENSP00000504452.1:n.*1364G>T
ENST00000678463.1:c.1507G>T	ENSP00000502984.1:p.Gly503Cys
ENST00000678568.1:c.*914G>T	ENSP00000504754.1:n.*914G>T
ENST00000678641.1:c.*934G>T	ENSP00000503159.1:n.*934G>T
ENST00000678763.1:n.1905G>T
ENST00000313863.10:c.*2G>T	ENSP00000316631.6:n.*2G>T
ENST00000393119.6:c.1590G>T	ENSP00000376827.2:p.Glu530Asp
ENST00000393120.6:c.*997G>T	ENSP00000376828.2:n.*997G>T
ENST00000537529.6:c.1560G>T	ENSP00000442096.2:p.Glu520Asp
ENST00000583577.1:n.416G>T
NM_001165927.1:c.1560G>T , LRG_687t2:c.1560G>T	NP_001159399.1:p.Glu520Asp
NM_017777.3:c.1590G>T , LRG_687t1:c.1590G>T	NP_060247.2:p.Glu530Asp
XM_005257483.3:c.1507G>T	XP_005257540.1:p.Gly503Cys
XM_005257485.3:c.1078G>T	XP_005257542.1:p.Gly360Cys
XM_005257486.3:c.981G>T	XP_005257543.1:p.Glu327Asp
XM_006721965.2:c.898G>T	XP_006722028.1:p.Gly300Cys
XM_011524957.1:c.1516G>T	XP_011523259.1:p.Gly506Cys
XM_011524958.1:c.1599G>T	XP_011523260.1:p.Glu533Asp
XM_011524959.1:c.*2G>T	XP_011523261.1:n.*2G>T
NM_001321268.1:c.981G>T	NP_001308197.1:p.Glu327Asp
NM_001321269.1:c.1507G>T	NP_001308198.1:p.Gly503Cys
NM_001330397.1:c.*2G>T	NP_001317326.1:n.*2G>T
XM_005257485.4:c.1078G>T	XP_005257542.1:p.Gly360Cys
XM_006721965.3:c.898G>T	XP_006722028.1:p.Gly300Cys
XM_011524957.2:c.1516G>T	XP_011523259.1:p.Gly506Cys
XM_011524958.2:c.1599G>T	XP_011523260.1:p.Glu533Asp
XM_011524959.2:c.*2G>T	XP_011523261.1:n.*2G>T
XM_017024805.1:c.1161G>T	XP_016880294.1:p.Glu387Asp
XR_002958042.1:n.1518G>T
NM_001321268.2:c.981G>T	NP_001308197.1:p.Glu327Asp
NM_001321269.2:c.1507G>T	NP_001308198.1:p.Gly503Cys
NM_001330397.2:c.*2G>T	NP_001317326.1:n.*2G>T
NM_017777.4:c.1590G>T MANE Select	NP_060247.2:p.Glu530Asp