Canonical Allele Identifier: CA8669394

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1499700
• ClinVar RCV Id: RCV002042402
• dbSNP Id: rs780007842
• ExAC: 17:56290360 G / A
• gnomAD v2: 17-56290360-G-A
• gnomAD v3: 17-58212999-G-A
• gnomAD v4: 17-58212999-G-A
• MyVariant Identifiers: chr17:g.56290360G>A (hg19) ; chr17:g.58212999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58212999G>A , CM000679.2:g.58212999G>A	GRCh38
NC_000017.10:g.56290360G>A , CM000679.1:g.56290360G>A	GRCh37
NC_000017.9:g.53645359G>A	NCBI36
NG_013032.1:g.11607C>T , LRG_687:g.11607C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.841C>T	ENSP00000316631.6:p.Arg281Trp
ENST00000393119.7:c.841C>T MANE Select	ENSP00000376827.2:p.Arg281Trp
ENST00000537529.7:c.412C>T	ENSP00000442096.3:p.Arg138Trp
ENST00000580127.6:c.841C>T	ENSP00000462423.2:p.Arg281Trp
ENST00000581761.6:c.841C>T	ENSP00000462129.2:p.Arg281Trp
ENST00000585134.2:c.841C>T	ENSP00000463826.2:p.Arg281Trp
ENST00000675753.2:c.*460C>T	ENSP00000502156.1:n.*460C>T
ENST00000676787.1:c.712C>T	ENSP00000503999.1:p.Arg238Trp
ENST00000676975.1:c.706C>T	ENSP00000503970.1:n.706C>T
ENST00000677076.1:n.2115C>T
ENST00000677111.1:c.841C>T	ENSP00000504282.1:p.Arg281Trp
ENST00000677160.1:n.2115C>T
ENST00000677416.1:n.866C>T
ENST00000677475.1:n.2792C>T
ENST00000677486.1:c.*185C>T	ENSP00000503852.1:n.*185C>T
ENST00000677546.1:c.*185C>T	ENSP00000504043.1:n.*185C>T
ENST00000677709.1:n.866C>T
ENST00000678011.1:n.866C>T
ENST00000678211.1:n.2890C>T
ENST00000678432.1:c.*460C>T	ENSP00000504452.1:n.*460C>T
ENST00000678463.1:c.841C>T	ENSP00000502984.1:p.Arg281Trp
ENST00000678481.1:n.642C>T
ENST00000678568.1:c.*248C>T	ENSP00000504754.1:n.*248C>T
ENST00000678641.1:c.*185C>T	ENSP00000503159.1:n.*185C>T
ENST00000678928.1:n.2468C>T
ENST00000679081.1:n.2857C>T
ENST00000313863.10:c.841C>T	ENSP00000316631.6:p.Arg281Trp
ENST00000393119.6:c.841C>T	ENSP00000376827.2:p.Arg281Trp
ENST00000393120.6:c.*248C>T	ENSP00000376828.2:n.*248C>T
ENST00000537529.6:c.811C>T	ENSP00000442096.2:p.Arg271Trp
ENST00000577824.5:c.318C>T
ENST00000581761.5:c.*248C>T	ENSP00000462129.1:n.*248C>T
ENST00000585134.1:c.64C>T	ENSP00000463826.1:p.Arg22Trp
NM_001165927.1:c.811C>T , LRG_687t2:c.811C>T	NP_001159399.1:p.Arg271Trp
NM_017777.3:c.841C>T , LRG_687t1:c.841C>T	NP_060247.2:p.Arg281Trp
XM_005257483.3:c.841C>T	XP_005257540.1:p.Arg281Trp
XM_005257485.3:c.412C>T	XP_005257542.1:p.Arg138Trp
XM_005257486.3:c.232C>T	XP_005257543.1:p.Arg78Trp
XM_006721965.2:c.232C>T	XP_006722028.1:p.Arg78Trp
XM_011524957.1:c.850C>T	XP_011523259.1:p.Arg284Trp
XM_011524958.1:c.850C>T	XP_011523260.1:p.Arg284Trp
XM_011524959.1:c.850C>T	XP_011523261.1:p.Arg284Trp
XM_011524960.1:c.850C>T	XP_011523262.1:p.Arg284Trp
XR_934494.1:n.898C>T
NM_001321268.1:c.232C>T	NP_001308197.1:p.Arg78Trp
NM_001321269.1:c.841C>T	NP_001308198.1:p.Arg281Trp
NM_001330397.1:c.841C>T	NP_001317326.1:p.Arg281Trp
XM_005257485.4:c.412C>T	XP_005257542.1:p.Arg138Trp
XM_006721965.3:c.232C>T	XP_006722028.1:p.Arg78Trp
XM_011524957.2:c.850C>T	XP_011523259.1:p.Arg284Trp
XM_011524958.2:c.850C>T	XP_011523260.1:p.Arg284Trp
XM_011524959.2:c.850C>T	XP_011523261.1:p.Arg284Trp
XM_011524960.2:c.850C>T	XP_011523262.1:p.Arg284Trp
XM_017024804.2:c.841C>T	XP_016880293.1:p.Arg281Trp
XM_017024805.1:c.412C>T	XP_016880294.1:p.Arg138Trp
XR_002958042.1:n.895C>T
NM_001321268.2:c.232C>T	NP_001308197.1:p.Arg78Trp
NM_001321269.2:c.841C>T	NP_001308198.1:p.Arg281Trp
NM_001330397.2:c.841C>T	NP_001317326.1:p.Arg281Trp
NM_017777.4:c.841C>T MANE Select	NP_060247.2:p.Arg281Trp