Canonical Allele Identifier: CA2842941075

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206041T>C , CM000679.2:g.58206041T>C	GRCh38
NC_000017.10:g.56283402T>C , CM000679.1:g.56283402T>C	GRCh37
NC_000017.9:g.53638401T>C	NCBI36
NG_013020.1:g.18314T>C
NG_013032.1:g.18565A>G , LRG_687:g.18565A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*130A>G	ENSP00000316631.6:n.*130A>G
ENST00000393119.7:c.*38A>G MANE Select	ENSP00000376827.2:n.*38A>G
ENST00000537529.7:c.*38A>G	ENSP00000442096.3:n.*38A>G
ENST00000675753.2:c.*1337A>G	ENSP00000502156.1:n.*1337A>G
ENST00000676787.1:c.*38A>G	ENSP00000503999.1:n.*38A>G
ENST00000677111.1:c.*1192A>G	ENSP00000504282.1:n.*1192A>G
ENST00000677160.1:n.2992A>G
ENST00000677416.1:n.3039A>G
ENST00000677486.1:c.*1062A>G	ENSP00000503852.1:n.*1062A>G
ENST00000677709.1:n.2418A>G
ENST00000678011.1:n.2618A>G
ENST00000678432.1:c.*1492A>G	ENSP00000504452.1:n.*1492A>G
ENST00000678463.1:c.1635A>G	ENSP00000502984.1:p.Arg545=
ENST00000678568.1:c.*1042A>G	ENSP00000504754.1:n.*1042A>G
ENST00000678641.1:c.*1062A>G	ENSP00000503159.1:n.*1062A>G
ENST00000678763.1:n.2033A>G
ENST00000313863.10:c.*130A>G	ENSP00000316631.6:n.*130A>G
ENST00000393119.6:c.*38A>G	ENSP00000376827.2:n.*38A>G
ENST00000393120.6:c.*1125A>G	ENSP00000376828.2:n.*1125A>G
ENST00000537529.6:c.*38A>G	ENSP00000442096.2:n.*38A>G
ENST00000583577.1:n.544A>G
NM_001165927.1:c.*38A>G , LRG_687t2:c.*38A>G	NP_001159399.1:n.*38A>G
NM_017777.3:c.*38A>G , LRG_687t1:c.*38A>G	NP_060247.2:n.*38A>G
XM_005257483.3:c.1635A>G	XP_005257540.1:p.Arg545=
XM_005257485.3:c.1206A>G	XP_005257542.1:p.Arg402=
XM_005257486.3:c.*38A>G	XP_005257543.1:n.*38A>G
XM_006721965.2:c.1026A>G	XP_006722028.1:p.Arg342=
XM_011524957.1:c.1644A>G	XP_011523259.1:p.Arg548=
XM_011524958.1:c.*38A>G	XP_011523260.1:n.*38A>G
XM_011524959.1:c.*130A>G	XP_011523261.1:n.*130A>G
NM_001321268.1:c.*38A>G	NP_001308197.1:n.*38A>G
NM_001321269.1:c.1635A>G	NP_001308198.1:p.Arg545=
NM_001330397.1:c.*130A>G	NP_001317326.1:n.*130A>G
XM_005257485.4:c.1206A>G	XP_005257542.1:p.Arg402=
XM_006721965.3:c.1026A>G	XP_006722028.1:p.Arg342=
XM_011524957.2:c.1644A>G	XP_011523259.1:p.Arg548=
XM_011524958.2:c.*38A>G	XP_011523260.1:n.*38A>G
XM_011524959.2:c.*130A>G	XP_011523261.1:n.*130A>G
XM_017024805.1:c.*38A>G	XP_016880294.1:n.*38A>G
XR_002958042.1:n.1646A>G
NM_001321268.2:c.*38A>G	NP_001308197.1:n.*38A>G
NM_001321269.2:c.1635A>G	NP_001308198.1:p.Arg545=
NM_001330397.2:c.*130A>G	NP_001317326.1:n.*130A>G
NM_017777.4:c.*38A>G MANE Select	NP_060247.2:n.*38A>G