Canonical Allele Identifier: CA342696

Gene: MKS1

Linked Data

• ClinVar Variation Id: 1391
• ClinVar RCV Id: RCV000022414 ; RCV000668139 ; RCV001038005 ; RCV001570919 ; RCV003472957
• dbSNP Id: rs199874059
• ExAC: 17:56288019 C / T
• gnomAD v2: 17-56288019-C-T
• gnomAD v3: 17-58210658-C-T
• gnomAD v4: 17-58210658-C-T
• MyVariant Identifiers: chr17:g.56288019C>T (hg19) ; chr17:g.58210658C>T (hg38)
• PubMed: PMID:17377820

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58210658C>T , CM000679.2:g.58210658C>T	GRCh38
NC_000017.10:g.56288019C>T , CM000679.1:g.56288019C>T	GRCh37
NC_000017.9:g.53643018C>T	NCBI36
NG_013032.1:g.13948G>A , LRG_687:g.13948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1024+1G>A	ENSP00000316631.6:n.1024+1G>A
ENST00000393119.7:c.1024+1G>A MANE Select	ENSP00000376827.2:n.1024+1G>A
ENST00000537529.7:c.595+1G>A	ENSP00000442096.3:n.595+1G>A
ENST00000580127.6:c.1024+1G>A	ENSP00000462423.2:n.1024+1G>A
ENST00000581761.6:c.1024+1G>A	ENSP00000462129.2:n.1024+1G>A
ENST00000585134.2:c.1024+1G>A	ENSP00000463826.2:n.1024+1G>A
ENST00000675753.2:c.*643+1G>A	ENSP00000502156.1:n.*643+1G>A
ENST00000676787.1:c.895+1G>A	ENSP00000503999.1:n.895+1G>A
ENST00000677111.1:c.915+1720G>A	ENSP00000504282.1:n.915+1720G>A
ENST00000677160.1:n.2298+1G>A
ENST00000677416.1:n.1049+1G>A
ENST00000677486.1:c.*368+1G>A	ENSP00000503852.1:n.*368+1G>A
ENST00000677546.1:c.*326G>A	ENSP00000504043.1:n.*326G>A
ENST00000677709.1:n.1049+1G>A
ENST00000678011.1:n.1049+1G>A
ENST00000678432.1:c.*643+1G>A	ENSP00000504452.1:n.*643+1G>A
ENST00000678463.1:c.1024+1G>A	ENSP00000502984.1:n.1024+1G>A
ENST00000678568.1:c.*431+1G>A	ENSP00000504754.1:n.*431+1G>A
ENST00000678641.1:c.*368+1G>A	ENSP00000503159.1:n.*368+1G>A
ENST00000678763.1:n.802+1G>A
ENST00000313863.10:c.1024+1G>A	ENSP00000316631.6:n.1024+1G>A
ENST00000393119.6:c.1024+1G>A	ENSP00000376827.2:n.1024+1G>A
ENST00000393120.6:c.*431+1G>A	ENSP00000376828.2:n.*431+1G>A
ENST00000537529.6:c.994+1G>A	ENSP00000442096.2:n.994+1G>A
ENST00000577315.5:c.77+1G>A
ENST00000577824.5:c.501+1G>A
ENST00000579358.1:n.462+1G>A
ENST00000585134.1:c.247+1G>A	ENSP00000463826.1:n.247+1G>A
NM_001165927.1:c.994+1G>A , LRG_687t2:c.994+1G>A	NP_001159399.1:n.994+1G>A
NM_017777.3:c.1024+1G>A , LRG_687t1:c.1024+1G>A	NP_060247.2:n.1024+1G>A
XM_005257483.3:c.1024+1G>A	XP_005257540.1:n.1024+1G>A
XM_005257485.3:c.595+1G>A	XP_005257542.1:n.595+1G>A
XM_005257486.3:c.415+1G>A	XP_005257543.1:n.415+1G>A
XM_006721965.2:c.415+1G>A	XP_006722028.1:n.415+1G>A
XM_011524957.1:c.1033+1G>A	XP_011523259.1:n.1033+1G>A
XM_011524958.1:c.1033+1G>A	XP_011523260.1:n.1033+1G>A
XM_011524959.1:c.1033+1G>A	XP_011523261.1:n.1033+1G>A
XM_011524960.1:c.1033+1G>A	XP_011523262.1:n.1033+1G>A
XR_934494.1:n.1038+1G>A
NM_001321268.1:c.415+1G>A	NP_001308197.1:n.415+1G>A
NM_001321269.1:c.1024+1G>A	NP_001308198.1:n.1024+1G>A
NM_001330397.1:c.1024+1G>A	NP_001317326.1:n.1024+1G>A
XM_005257485.4:c.595+1G>A	XP_005257542.1:n.595+1G>A
XM_006721965.3:c.415+1G>A	XP_006722028.1:n.415+1G>A
XM_011524957.2:c.1033+1G>A	XP_011523259.1:n.1033+1G>A
XM_011524958.2:c.1033+1G>A	XP_011523260.1:n.1033+1G>A
XM_011524959.2:c.1033+1G>A	XP_011523261.1:n.1033+1G>A
XM_011524960.2:c.1033+1G>A	XP_011523262.1:n.1033+1G>A
XM_017024804.2:c.1024+1G>A	XP_016880293.1:n.1024+1G>A
XM_017024805.1:c.595+1G>A	XP_016880294.1:n.595+1G>A
XR_002958042.1:n.1035+1G>A
NM_001321268.2:c.415+1G>A	NP_001308197.1:n.415+1G>A
NM_001321269.2:c.1024+1G>A	NP_001308198.1:n.1024+1G>A
NM_001330397.2:c.1024+1G>A	NP_001317326.1:n.1024+1G>A
NM_017777.4:c.1024+1G>A MANE Select	NP_060247.2:n.1024+1G>A