Canonical Allele Identifier: CA2842941076

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206059T>C , CM000679.2:g.58206059T>C	GRCh38
NC_000017.10:g.56283420T>C , CM000679.1:g.56283420T>C	GRCh37
NC_000017.9:g.53638419T>C	NCBI36
NG_013020.1:g.18332T>C
NG_013032.1:g.18547A>G , LRG_687:g.18547A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*112A>G	ENSP00000316631.6:n.*112A>G
ENST00000393119.7:c.*20A>G MANE Select	ENSP00000376827.2:n.*20A>G
ENST00000537529.7:c.*20A>G	ENSP00000442096.3:n.*20A>G
ENST00000675753.2:c.*1319A>G	ENSP00000502156.1:n.*1319A>G
ENST00000676787.1:c.*20A>G	ENSP00000503999.1:n.*20A>G
ENST00000677111.1:c.*1174A>G	ENSP00000504282.1:n.*1174A>G
ENST00000677160.1:n.2974A>G
ENST00000677416.1:n.3021A>G
ENST00000677486.1:c.*1044A>G	ENSP00000503852.1:n.*1044A>G
ENST00000677709.1:n.2400A>G
ENST00000678011.1:n.2600A>G
ENST00000678432.1:c.*1474A>G	ENSP00000504452.1:n.*1474A>G
ENST00000678463.1:c.1617A>G	ENSP00000502984.1:p.Pro539=
ENST00000678568.1:c.*1024A>G	ENSP00000504754.1:n.*1024A>G
ENST00000678641.1:c.*1044A>G	ENSP00000503159.1:n.*1044A>G
ENST00000678763.1:n.2015A>G
ENST00000313863.10:c.*112A>G	ENSP00000316631.6:n.*112A>G
ENST00000393119.6:c.*20A>G	ENSP00000376827.2:n.*20A>G
ENST00000393120.6:c.*1107A>G	ENSP00000376828.2:n.*1107A>G
ENST00000537529.6:c.*20A>G	ENSP00000442096.2:n.*20A>G
ENST00000583577.1:n.526A>G
NM_001165927.1:c.*20A>G , LRG_687t2:c.*20A>G	NP_001159399.1:n.*20A>G
NM_017777.3:c.*20A>G , LRG_687t1:c.*20A>G	NP_060247.2:n.*20A>G
XM_005257483.3:c.1617A>G	XP_005257540.1:p.Pro539=
XM_005257485.3:c.1188A>G	XP_005257542.1:p.Pro396=
XM_005257486.3:c.*20A>G	XP_005257543.1:n.*20A>G
XM_006721965.2:c.1008A>G	XP_006722028.1:p.Pro336=
XM_011524957.1:c.1626A>G	XP_011523259.1:p.Pro542=
XM_011524958.1:c.*20A>G	XP_011523260.1:n.*20A>G
XM_011524959.1:c.*112A>G	XP_011523261.1:n.*112A>G
NM_001321268.1:c.*20A>G	NP_001308197.1:n.*20A>G
NM_001321269.1:c.1617A>G	NP_001308198.1:p.Pro539=
NM_001330397.1:c.*112A>G	NP_001317326.1:n.*112A>G
XM_005257485.4:c.1188A>G	XP_005257542.1:p.Pro396=
XM_006721965.3:c.1008A>G	XP_006722028.1:p.Pro336=
XM_011524957.2:c.1626A>G	XP_011523259.1:p.Pro542=
XM_011524958.2:c.*20A>G	XP_011523260.1:n.*20A>G
XM_011524959.2:c.*112A>G	XP_011523261.1:n.*112A>G
XM_017024805.1:c.*20A>G	XP_016880294.1:n.*20A>G
XR_002958042.1:n.1628A>G
NM_001321268.2:c.*20A>G	NP_001308197.1:n.*20A>G
NM_001321269.2:c.1617A>G	NP_001308198.1:p.Pro539=
NM_001330397.2:c.*112A>G	NP_001317326.1:n.*112A>G
NM_017777.4:c.*20A>G MANE Select	NP_060247.2:n.*20A>G