Canonical Allele Identifier: CA2267604852

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58212992A= , CM000679.2:g.58212992A=	GRCh38
NC_000017.10:g.56290353A= , CM000679.1:g.56290353A=	GRCh37
NC_000017.9:g.53645352A=	NCBI36
NG_013032.1:g.11614T= , LRG_687:g.11614T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.848T=	ENSP00000316631.6:p.Val283=
ENST00000393119.7:c.848T= MANE Select	ENSP00000376827.2:p.Val283=
ENST00000537529.7:c.419T=	ENSP00000442096.3:p.Val140=
ENST00000580127.6:c.848T=	ENSP00000462423.2:p.Val283=
ENST00000581761.6:c.848T=	ENSP00000462129.2:p.Val283=
ENST00000585134.2:c.848T=	ENSP00000463826.2:p.Val283=
ENST00000675753.2:c.*467T=	ENSP00000502156.1:n.*467T=
ENST00000676787.1:c.719T=	ENSP00000503999.1:p.Val240=
ENST00000676975.1:c.713T=	ENSP00000503970.1:n.713T=
ENST00000677076.1:n.2122T=
ENST00000677111.1:c.848T=	ENSP00000504282.1:p.Val283=
ENST00000677160.1:n.2122T=
ENST00000677416.1:n.873T=
ENST00000677475.1:n.2799T=
ENST00000677486.1:c.*192T=	ENSP00000503852.1:n.*192T=
ENST00000677546.1:c.*192T=	ENSP00000504043.1:n.*192T=
ENST00000677709.1:n.873T=
ENST00000678011.1:n.873T=
ENST00000678211.1:n.2897T=
ENST00000678432.1:c.*467T=	ENSP00000504452.1:n.*467T=
ENST00000678463.1:c.848T=	ENSP00000502984.1:p.Val283=
ENST00000678481.1:n.649T=
ENST00000678568.1:c.*255T=	ENSP00000504754.1:n.*255T=
ENST00000678641.1:c.*192T=	ENSP00000503159.1:n.*192T=
ENST00000678928.1:n.2475T=
ENST00000679081.1:n.2864T=
ENST00000313863.10:c.848T=	ENSP00000316631.6:p.Val283=
ENST00000393119.6:c.848T=	ENSP00000376827.2:p.Val283=
ENST00000393120.6:c.*255T=	ENSP00000376828.2:n.*255T=
ENST00000537529.6:c.818T=	ENSP00000442096.2:p.Val273=
ENST00000577824.5:c.325T=
ENST00000581761.5:c.*255T=	ENSP00000462129.1:n.*255T=
ENST00000585134.1:c.71T=	ENSP00000463826.1:p.Val24=
NM_001165927.1:c.818T= , LRG_687t2:c.818T=	NP_001159399.1:p.Val273=
NM_017777.3:c.848T= , LRG_687t1:c.848T=	NP_060247.2:p.Val283=
XM_005257483.3:c.848T=	XP_005257540.1:p.Val283=
XM_005257485.3:c.419T=	XP_005257542.1:p.Val140=
XM_005257486.3:c.239T=	XP_005257543.1:p.Val80=
XM_006721965.2:c.239T=	XP_006722028.1:p.Val80=
XM_011524957.1:c.857T=	XP_011523259.1:p.Val286=
XM_011524958.1:c.857T=	XP_011523260.1:p.Val286=
XM_011524959.1:c.857T=	XP_011523261.1:p.Val286=
XM_011524960.1:c.857T=	XP_011523262.1:p.Val286=
XR_934494.1:n.905T=
NM_001321268.1:c.239T=	NP_001308197.1:p.Val80=
NM_001321269.1:c.848T=	NP_001308198.1:p.Val283=
NM_001330397.1:c.848T=	NP_001317326.1:p.Val283=
XM_005257485.4:c.419T=	XP_005257542.1:p.Val140=
XM_006721965.3:c.239T=	XP_006722028.1:p.Val80=
XM_011524957.2:c.857T=	XP_011523259.1:p.Val286=
XM_011524958.2:c.857T=	XP_011523260.1:p.Val286=
XM_011524959.2:c.857T=	XP_011523261.1:p.Val286=
XM_011524960.2:c.857T=	XP_011523262.1:p.Val286=
XM_017024804.2:c.848T=	XP_016880293.1:p.Val283=
XM_017024805.1:c.419T=	XP_016880294.1:p.Val140=
XR_002958042.1:n.902T=
NM_001321268.2:c.239T=	NP_001308197.1:p.Val80=
NM_001321269.2:c.848T=	NP_001308198.1:p.Val283=
NM_001330397.2:c.848T=	NP_001317326.1:p.Val283=
NM_017777.4:c.848T= MANE Select	NP_060247.2:p.Val283=