Canonical Allele Identifier: CA400328130

Gene: MKS1 LPO

Linked Data

• ClinVar Variation Id: 2474046
• ClinVar RCV Id: RCV003198180
• gnomAD v4: 17-58219166-C-T
• MyVariant Identifiers: chr17:g.56296527C>T (hg19) ; chr17:g.58219166C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58219166C>T , CM000679.2:g.58219166C>T	GRCh38
NC_000017.10:g.56296527C>T , CM000679.1:g.56296527C>T	GRCh37
NC_000017.9:g.53651526C>T	NCBI36
NG_013032.1:g.5440G>A , LRG_687:g.5440G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.65G>A (MKS1)	ENSP00000316631.6:p.Arg22His
ENST00000393119.7:c.65G>A (MKS1) MANE Select	ENSP00000376827.2:p.Arg22His
ENST00000537529.7:c.-350+296G>A (MKS1)	ENSP00000442096.3:n.-350+296G>A
ENST00000580127.6:c.65G>A (MKS1)	ENSP00000462423.2:p.Arg22His
ENST00000581180.2:c.65G>A (MKS1)	ENSP00000502288.1:p.Arg22His
ENST00000581761.6:c.65G>A (MKS1)	ENSP00000462129.2:p.Arg22His
ENST00000585134.2:c.65G>A (MKS1)	ENSP00000463826.2:p.Arg22His
ENST00000675753.2:c.65G>A (MKS1)	ENSP00000502156.1:p.Arg22His
ENST00000676787.1:c.65G>A (MKS1)	ENSP00000503999.1:p.Arg22His
ENST00000677076.1:n.90G>A (MKS1)
ENST00000677111.1:c.65G>A (MKS1)	ENSP00000504282.1:p.Arg22His
ENST00000677160.1:n.90G>A (MKS1)
ENST00000677416.1:n.90G>A (MKS1)
ENST00000677475.1:n.90G>A (MKS1)
ENST00000677486.1:c.65G>A (MKS1)	ENSP00000503852.1:p.Arg22His
ENST00000677546.1:c.65G>A (MKS1)	ENSP00000504043.1:p.Arg22His
ENST00000677709.1:n.90G>A (MKS1)
ENST00000677791.1:n.90G>A (MKS1)
ENST00000678011.1:n.90G>A (MKS1)
ENST00000678211.1:n.90G>A (MKS1)
ENST00000678432.1:c.65G>A (MKS1)	ENSP00000504452.1:p.Arg22His
ENST00000678463.1:c.65G>A (MKS1)	ENSP00000502984.1:p.Arg22His
ENST00000678481.1:n.90G>A (MKS1)
ENST00000678568.1:c.65G>A (MKS1)	ENSP00000504754.1:p.Arg22His
ENST00000678641.1:c.65G>A (MKS1)	ENSP00000503159.1:p.Arg22His
ENST00000678928.1:n.90G>A (MKS1)
ENST00000679081.1:n.90G>A (MKS1)
ENST00000313863.10:c.65G>A (MKS1)	ENSP00000316631.6:p.Arg22His
ENST00000393119.6:c.65G>A (MKS1)	ENSP00000376827.2:p.Arg22His
ENST00000393120.6:c.65G>A (MKS1)	ENSP00000376828.2:p.Arg22His
ENST00000537529.6:c.50+296G>A (MKS1)	ENSP00000442096.2:n.50+296G>A
ENST00000578789.1:c.65G>A (MKS1)	ENSP00000462411.1:p.Arg22His
ENST00000580127.5:c.65G>A (MKS1)	ENSP00000462423.1:p.Arg22His
ENST00000581180.1:n.65G>A (MKS1)
ENST00000581761.5:c.65G>A (MKS1)	ENSP00000462129.1:p.Arg22His
ENST00000582328.5:c.-289+349C>T (LPO)	ENSP00000464636.1:n.-289+349C>T
NM_001165927.1:c.50+296G>A , LRG_687t2:c.50+296G>A (MKS1)	NP_001159399.1:n.50+296G>A
NM_017777.3:c.65G>A , LRG_687t1:c.65G>A (MKS1)	NP_060247.2:p.Arg22His
XM_005257483.3:c.65G>A (MKS1)	XP_005257540.1:p.Arg22His
XM_005257485.3:c.-425G>A (MKS1)	XP_005257542.1:n.-425G>A
XM_005257486.3:c.-447G>A (MKS1)	XP_005257543.1:n.-447G>A
XM_006721965.2:c.-447G>A (MKS1)	XP_006722028.1:n.-447G>A
XM_011524957.1:c.65G>A (MKS1)	XP_011523259.1:p.Arg22His
XM_011524958.1:c.65G>A (MKS1)	XP_011523260.1:p.Arg22His
XM_011524959.1:c.65G>A (MKS1)	XP_011523261.1:p.Arg22His
XM_011524960.1:c.65G>A (MKS1)	XP_011523262.1:p.Arg22His
XR_934494.1:n.113G>A (MKS1)
NM_001321268.1:c.-447G>A (MKS1)	NP_001308197.1:n.-447G>A
NM_001321269.1:c.65G>A (MKS1)	NP_001308198.1:p.Arg22His
NM_001330397.1:c.65G>A (MKS1)	NP_001317326.1:p.Arg22His
XM_005257485.4:c.-425G>A (MKS1)	XP_005257542.1:n.-425G>A
XM_006721965.3:c.-447G>A (MKS1)	XP_006722028.1:n.-447G>A
XM_011524957.2:c.65G>A (MKS1)	XP_011523259.1:p.Arg22His
XM_011524958.2:c.65G>A (MKS1)	XP_011523260.1:p.Arg22His
XM_011524959.2:c.65G>A (MKS1)	XP_011523261.1:p.Arg22His
XM_011524960.2:c.65G>A (MKS1)	XP_011523262.1:p.Arg22His
XM_017024804.2:c.65G>A (MKS1)	XP_016880293.1:p.Arg22His
XM_017024805.1:c.-425G>A (MKS1)	XP_016880294.1:n.-425G>A
XR_002958042.1:n.110G>A (MKS1)
NM_001321268.2:c.-447G>A (MKS1)	NP_001308197.1:n.-447G>A
NM_001321269.2:c.65G>A (MKS1)	NP_001308198.1:p.Arg22His
NM_001330397.2:c.65G>A (MKS1)	NP_001317326.1:p.Arg22His
NM_017777.4:c.65G>A (MKS1) MANE Select	NP_060247.2:p.Arg22His