Canonical Allele Identifier: CA8669059

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206149C>T , CM000679.2:g.58206149C>T	GRCh38
NC_000017.10:g.56283510C>T , CM000679.1:g.56283510C>T	GRCh37
NC_000017.9:g.53638509C>T	NCBI36
NG_013020.1:g.18422C>T
NG_013032.1:g.18457G>A , LRG_687:g.18457G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*22G>A	ENSP00000316631.6:n.*22G>A
ENST00000393119.7:c.1610G>A MANE Select	ENSP00000376827.2:p.Arg537His
ENST00000537529.7:c.1181G>A	ENSP00000442096.3:p.Arg394His
ENST00000675753.2:c.*1229G>A	ENSP00000502156.1:n.*1229G>A
ENST00000676787.1:c.1481G>A	ENSP00000503999.1:p.Arg494His
ENST00000677111.1:c.*1084G>A	ENSP00000504282.1:n.*1084G>A
ENST00000677160.1:n.2884G>A
ENST00000677416.1:n.2931G>A
ENST00000677486.1:c.*954G>A	ENSP00000503852.1:n.*954G>A
ENST00000677709.1:n.2310G>A
ENST00000678011.1:n.2510G>A
ENST00000678432.1:c.*1384G>A	ENSP00000504452.1:n.*1384G>A
ENST00000678463.1:c.1527G>A	ENSP00000502984.1:p.Ala509=
ENST00000678568.1:c.*934G>A	ENSP00000504754.1:n.*934G>A
ENST00000678641.1:c.*954G>A	ENSP00000503159.1:n.*954G>A
ENST00000678763.1:n.1925G>A
ENST00000313863.10:c.*22G>A	ENSP00000316631.6:n.*22G>A
ENST00000393119.6:c.1610G>A	ENSP00000376827.2:p.Arg537His
ENST00000393120.6:c.*1017G>A	ENSP00000376828.2:n.*1017G>A
ENST00000537529.6:c.1580G>A	ENSP00000442096.2:p.Arg527His
ENST00000583577.1:n.436G>A
NM_001165927.1:c.1580G>A , LRG_687t2:c.1580G>A	NP_001159399.1:p.Arg527His
NM_017777.3:c.1610G>A , LRG_687t1:c.1610G>A	NP_060247.2:p.Arg537His
XM_005257483.3:c.1527G>A	XP_005257540.1:p.Ala509=
XM_005257485.3:c.1098G>A	XP_005257542.1:p.Ala366=
XM_005257486.3:c.1001G>A	XP_005257543.1:p.Arg334His
XM_006721965.2:c.918G>A	XP_006722028.1:p.Ala306=
XM_011524957.1:c.1536G>A	XP_011523259.1:p.Ala512=
XM_011524958.1:c.1619G>A	XP_011523260.1:p.Arg540His
XM_011524959.1:c.*22G>A	XP_011523261.1:n.*22G>A
NM_001321268.1:c.1001G>A	NP_001308197.1:p.Arg334His
NM_001321269.1:c.1527G>A	NP_001308198.1:p.Ala509=
NM_001330397.1:c.*22G>A	NP_001317326.1:n.*22G>A
XM_005257485.4:c.1098G>A	XP_005257542.1:p.Ala366=
XM_006721965.3:c.918G>A	XP_006722028.1:p.Ala306=
XM_011524957.2:c.1536G>A	XP_011523259.1:p.Ala512=
XM_011524958.2:c.1619G>A	XP_011523260.1:p.Arg540His
XM_011524959.2:c.*22G>A	XP_011523261.1:n.*22G>A
XM_017024805.1:c.1181G>A	XP_016880294.1:p.Arg394His
XR_002958042.1:n.1538G>A
NM_001321268.2:c.1001G>A	NP_001308197.1:p.Arg334His
NM_001321269.2:c.1527G>A	NP_001308198.1:p.Ala509=
NM_001330397.2:c.*22G>A	NP_001317326.1:n.*22G>A
NM_017777.4:c.1610G>A MANE Select	NP_060247.2:p.Arg537His