Canonical Allele Identifier: CA2267601980

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206098G= , CM000679.2:g.58206098G=	GRCh38
NC_000017.10:g.56283459G= , CM000679.1:g.56283459G=	GRCh37
NC_000017.9:g.53638458G=	NCBI36
NG_013020.1:g.18371G=
NG_013032.1:g.18508C= , LRG_687:g.18508C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.*73C=	ENSP00000316631.6:n.*73C=
ENST00000393119.7:c.1661C= MANE Select	ENSP00000376827.2:p.Ser554=
ENST00000537529.7:c.1232C=	ENSP00000442096.3:p.Ser411=
ENST00000675753.2:c.*1280C=	ENSP00000502156.1:n.*1280C=
ENST00000676787.1:c.1532C=	ENSP00000503999.1:p.Ser511=
ENST00000677111.1:c.*1135C=	ENSP00000504282.1:n.*1135C=
ENST00000677160.1:n.2935C=
ENST00000677416.1:n.2982C=
ENST00000677486.1:c.*1005C=	ENSP00000503852.1:n.*1005C=
ENST00000677709.1:n.2361C=
ENST00000678011.1:n.2561C=
ENST00000678432.1:c.*1435C=	ENSP00000504452.1:n.*1435C=
ENST00000678463.1:c.1578C=	ENSP00000502984.1:p.Leu526=
ENST00000678568.1:c.*985C=	ENSP00000504754.1:n.*985C=
ENST00000678641.1:c.*1005C=	ENSP00000503159.1:n.*1005C=
ENST00000678763.1:n.1976C=
ENST00000313863.10:c.*73C=	ENSP00000316631.6:n.*73C=
ENST00000393119.6:c.1661C=	ENSP00000376827.2:p.Ser554=
ENST00000393120.6:c.*1068C=	ENSP00000376828.2:n.*1068C=
ENST00000537529.6:c.1631C=	ENSP00000442096.2:p.Ser544=
ENST00000583577.1:n.487C=
NM_001165927.1:c.1631C= , LRG_687t2:c.1631C=	NP_001159399.1:p.Ser544=
NM_017777.3:c.1661C= , LRG_687t1:c.1661C=	NP_060247.2:p.Ser554=
XM_005257483.3:c.1578C=	XP_005257540.1:p.Leu526=
XM_005257485.3:c.1149C=	XP_005257542.1:p.Leu383=
XM_005257486.3:c.1052C=	XP_005257543.1:p.Ser351=
XM_006721965.2:c.969C=	XP_006722028.1:p.Leu323=
XM_011524957.1:c.1587C=	XP_011523259.1:p.Leu529=
XM_011524958.1:c.1670C=	XP_011523260.1:p.Ser557=
XM_011524959.1:c.*73C=	XP_011523261.1:n.*73C=
NM_001321268.1:c.1052C=	NP_001308197.1:p.Ser351=
NM_001321269.1:c.1578C=	NP_001308198.1:p.Leu526=
NM_001330397.1:c.*73C=	NP_001317326.1:n.*73C=
XM_005257485.4:c.1149C=	XP_005257542.1:p.Leu383=
XM_006721965.3:c.969C=	XP_006722028.1:p.Leu323=
XM_011524957.2:c.1587C=	XP_011523259.1:p.Leu529=
XM_011524958.2:c.1670C=	XP_011523260.1:p.Ser557=
XM_011524959.2:c.*73C=	XP_011523261.1:n.*73C=
XM_017024805.1:c.1232C=	XP_016880294.1:p.Ser411=
XR_002958042.1:n.1589C=
NM_001321268.2:c.1052C=	NP_001308197.1:p.Ser351=
NM_001321269.2:c.1578C=	NP_001308198.1:p.Leu526=
NM_001330397.2:c.*73C=	NP_001317326.1:n.*73C=
NM_017777.4:c.1661C= MANE Select	NP_060247.2:p.Ser554=