Canonical Allele Identifier: CA2267602051

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206241C= , CM000679.2:g.58206241C=	GRCh38
NC_000017.10:g.56283602C= , CM000679.1:g.56283602C=	GRCh37
NC_000017.9:g.53638601C=	NCBI36
NG_013020.1:g.18514C=
NG_013032.1:g.18365G= , LRG_687:g.18365G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313863.11:c.1371+42G=	ENSP00000316631.6:n.1371+42G=
ENST00000393119.7:c.1588+42G= MANE Select	ENSP00000376827.2:n.1588+42G=
ENST00000537529.7:c.1159+42G=	ENSP00000442096.3:n.1159+42G=
ENST00000675753.2:c.*1207+42G=	ENSP00000502156.1:n.*1207+42G=
ENST00000676787.1:c.1459+42G=	ENSP00000503999.1:n.1459+42G=
ENST00000677111.1:c.*1062+42G=	ENSP00000504282.1:n.*1062+42G=
ENST00000677160.1:n.2862+42G=
ENST00000677416.1:n.2909+42G=
ENST00000677486.1:c.*932+42G=	ENSP00000503852.1:n.*932+42G=
ENST00000677709.1:n.2288+42G=
ENST00000678011.1:n.2488+42G=
ENST00000678432.1:c.*1362+42G=	ENSP00000504452.1:n.*1362+42G=
ENST00000678463.1:c.1505+42G=	ENSP00000502984.1:n.1505+42G=
ENST00000678568.1:c.*912+42G=	ENSP00000504754.1:n.*912+42G=
ENST00000678641.1:c.*932+42G=	ENSP00000503159.1:n.*932+42G=
ENST00000678763.1:n.1903+42G=
ENST00000313863.10:c.1371+42G=	ENSP00000316631.6:n.1371+42G=
ENST00000393119.6:c.1588+42G=	ENSP00000376827.2:n.1588+42G=
ENST00000393120.6:c.*995+42G=	ENSP00000376828.2:n.*995+42G=
ENST00000537529.6:c.1558+42G=	ENSP00000442096.2:n.1558+42G=
ENST00000583577.1:n.414+42G=
NM_001165927.1:c.1558+42G= , LRG_687t2:c.1558+42G=	NP_001159399.1:n.1558+42G=
NM_017777.3:c.1588+42G= , LRG_687t1:c.1588+42G=	NP_060247.2:n.1588+42G=
XM_005257483.3:c.1505+42G=	XP_005257540.1:n.1505+42G=
XM_005257485.3:c.1076+42G=	XP_005257542.1:n.1076+42G=
XM_005257486.3:c.979+42G=	XP_005257543.1:n.979+42G=
XM_006721965.2:c.896+42G=	XP_006722028.1:n.896+42G=
XM_011524957.1:c.1514+42G=	XP_011523259.1:n.1514+42G=
XM_011524958.1:c.1597+42G=	XP_011523260.1:n.1597+42G=
XM_011524959.1:c.1380+42G=	XP_011523261.1:n.1380+42G=
NM_001321268.1:c.979+42G=	NP_001308197.1:n.979+42G=
NM_001321269.1:c.1505+42G=	NP_001308198.1:n.1505+42G=
NM_001330397.1:c.1371+42G=	NP_001317326.1:n.1371+42G=
XM_005257485.4:c.1076+42G=	XP_005257542.1:n.1076+42G=
XM_006721965.3:c.896+42G=	XP_006722028.1:n.896+42G=
XM_011524957.2:c.1514+42G=	XP_011523259.1:n.1514+42G=
XM_011524958.2:c.1597+42G=	XP_011523260.1:n.1597+42G=
XM_011524959.2:c.1380+42G=	XP_011523261.1:n.1380+42G=
XM_017024805.1:c.1159+42G=	XP_016880294.1:n.1159+42G=
XR_002958042.1:n.1516+42G=
NM_001321268.2:c.979+42G=	NP_001308197.1:n.979+42G=
NM_001321269.2:c.1505+42G=	NP_001308198.1:n.1505+42G=
NM_001330397.2:c.1371+42G=	NP_001317326.1:n.1371+42G=
NM_017777.4:c.1588+42G= MANE Select	NP_060247.2:n.1588+42G=