Canonical Allele Identifier: CA501036542

Gene: MKS1

Linked Data

• ClinVar Variation Id: 2936071
• ClinVar RCV Id: RCV003796357
• dbSNP Id: rs2143819075
• MyVariant Identifiers: chr17:g.56293476G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58216115G>A , CM000679.2:g.58216115G>A	GRCh38
NC_000017.10:g.56293476G>A , CM000679.1:g.56293476G>A	GRCh37
NC_000017.9:g.53648475G>A	NCBI36
NG_013032.1:g.8491C>T , LRG_687:g.8491C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.390C>T	ENSP00000316631.6:p.Asp130=
ENST00000393119.7:c.390C>T MANE Select	ENSP00000376827.2:p.Asp130=
ENST00000537529.7:c.-40C>T	ENSP00000442096.3:n.-40C>T
ENST00000580127.6:c.390C>T	ENSP00000462423.2:p.Asp130=
ENST00000581180.2:c.390C>T	ENSP00000502288.1:p.Asp130=
ENST00000581761.6:c.390C>T	ENSP00000462129.2:p.Asp130=
ENST00000585134.2:c.390C>T	ENSP00000463826.2:p.Asp130=
ENST00000675753.2:c.390C>T	ENSP00000502156.1:p.Asp130=
ENST00000676787.1:c.390C>T	ENSP00000503999.1:p.Asp130=
ENST00000676975.1:c.51C>T	ENSP00000503970.1:p.Asp17=
ENST00000677076.1:n.415C>T
ENST00000677111.1:c.390C>T	ENSP00000504282.1:p.Asp130=
ENST00000677160.1:n.415C>T
ENST00000677416.1:n.415C>T
ENST00000677475.1:n.418C>T
ENST00000677486.1:c.261+551C>T	ENSP00000503852.1:n.261+551C>T
ENST00000677546.1:c.390C>T	ENSP00000504043.1:p.Asp130=
ENST00000677709.1:n.415C>T
ENST00000677791.1:n.418C>T
ENST00000678011.1:n.415C>T
ENST00000678211.1:n.837C>T
ENST00000678432.1:c.390C>T	ENSP00000504452.1:p.Asp130=
ENST00000678463.1:c.390C>T	ENSP00000502984.1:p.Asp130=
ENST00000678481.1:n.418C>T
ENST00000678568.1:c.191-1277C>T	ENSP00000504754.1:n.191-1277C>T
ENST00000678641.1:c.390C>T	ENSP00000503159.1:p.Asp130=
ENST00000678928.1:n.415C>T
ENST00000679081.1:n.415C>T
ENST00000313863.10:c.390C>T	ENSP00000316631.6:p.Asp130=
ENST00000393119.6:c.390C>T	ENSP00000376827.2:p.Asp130=
ENST00000393120.6:c.390C>T	ENSP00000376828.2:p.Asp130=
ENST00000537529.6:c.360C>T	ENSP00000442096.2:p.Asp120=
ENST00000578789.1:c.*133C>T	ENSP00000462411.1:n.*133C>T
ENST00000580127.5:c.390C>T	ENSP00000462423.1:p.Asp130=
ENST00000581180.1:n.390C>T
ENST00000581761.5:c.191-1277C>T	ENSP00000462129.1:n.191-1277C>T
NM_001165927.1:c.360C>T , LRG_687t2:c.360C>T	NP_001159399.1:p.Asp120=
NM_017777.3:c.390C>T , LRG_687t1:c.390C>T	NP_060247.2:p.Asp130=
XM_005257483.3:c.390C>T	XP_005257540.1:p.Asp130=
XM_005257485.3:c.-100C>T	XP_005257542.1:n.-100C>T
XM_005257486.3:c.-122C>T	XP_005257543.1:n.-122C>T
XM_006721965.2:c.-122C>T	XP_006722028.1:n.-122C>T
XM_011524957.1:c.399C>T	XP_011523259.1:p.Asp133=
XM_011524958.1:c.399C>T	XP_011523260.1:p.Asp133=
XM_011524959.1:c.399C>T	XP_011523261.1:p.Asp133=
XM_011524960.1:c.399C>T	XP_011523262.1:p.Asp133=
XR_934494.1:n.447C>T
NM_001321268.1:c.-122C>T	NP_001308197.1:n.-122C>T
NM_001321269.1:c.390C>T	NP_001308198.1:p.Asp130=
NM_001330397.1:c.390C>T	NP_001317326.1:p.Asp130=
XM_005257485.4:c.-100C>T	XP_005257542.1:n.-100C>T
XM_006721965.3:c.-122C>T	XP_006722028.1:n.-122C>T
XM_011524957.2:c.399C>T	XP_011523259.1:p.Asp133=
XM_011524958.2:c.399C>T	XP_011523260.1:p.Asp133=
XM_011524959.2:c.399C>T	XP_011523261.1:p.Asp133=
XM_011524960.2:c.399C>T	XP_011523262.1:p.Asp133=
XM_017024804.2:c.390C>T	XP_016880293.1:p.Asp130=
XM_017024805.1:c.-100C>T	XP_016880294.1:n.-100C>T
XR_002958042.1:n.444C>T
NM_001321268.2:c.-122C>T	NP_001308197.1:n.-122C>T
NM_001321269.2:c.390C>T	NP_001308198.1:p.Asp130=
NM_001330397.2:c.390C>T	NP_001317326.1:p.Asp130=
NM_017777.4:c.390C>T MANE Select	NP_060247.2:p.Asp130=