Canonical Allele Identifier: CA400325016

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58207191C>T , CM000679.2:g.58207191C>T	GRCh38
NC_000017.10:g.56284552C>T , CM000679.1:g.56284552C>T	GRCh37
NC_000017.9:g.53639551C>T	NCBI36
NG_013032.1:g.17415G>A , LRG_687:g.17415G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1301G>A MANE Select	NP_060247.2:p.Trp434Ter
ENST00000393119.7:c.1301G>A MANE Select	ENSP00000376827.2:p.Trp434Ter
NM_001165927.1:c.1271G>A , LRG_687t2:c.1271G>A	NP_001159399.1:p.Trp424Ter
NM_001321268.1:c.692G>A	NP_001308197.1:p.Trp231Ter
NM_001321268.2:c.692G>A	NP_001308197.1:p.Trp231Ter
NM_001321269.1:c.1301G>A	NP_001308198.1:p.Trp434Ter
NM_001321269.2:c.1301G>A	NP_001308198.1:p.Trp434Ter
NM_001330397.1:c.1273+703G>A	NP_001317326.1:n.1273+703G>A
NM_001330397.2:c.1273+703G>A	NP_001317326.1:n.1273+703G>A
NM_017777.3:c.1301G>A , LRG_687t1:c.1301G>A	NP_060247.2:p.Trp434Ter
ENST00000313863.10:c.1273+703G>A	ENSP00000316631.6:n.1273+703G>A
ENST00000313863.11:c.1273+703G>A	ENSP00000316631.6:n.1273+703G>A
ENST00000393119.6:c.1301G>A	ENSP00000376827.2:p.Trp434Ter
ENST00000393120.6:c.*708G>A	ENSP00000376828.2:n.*708G>A
ENST00000537529.6:c.1271G>A	ENSP00000442096.2:p.Trp424Ter
ENST00000537529.7:c.872G>A	ENSP00000442096.3:p.Trp291Ter
ENST00000675753.2:c.*920G>A	ENSP00000502156.1:n.*920G>A
ENST00000676787.1:c.1172G>A	ENSP00000503999.1:p.Trp391Ter
ENST00000677111.1:c.*238G>A	ENSP00000504282.1:n.*238G>A
ENST00000677160.1:n.2575G>A
ENST00000677416.1:n.2001G>A
ENST00000677486.1:c.*645G>A	ENSP00000503852.1:n.*645G>A
ENST00000677709.1:n.2001G>A
ENST00000678011.1:n.1664G>A
ENST00000678432.1:c.*1075G>A	ENSP00000504452.1:n.*1075G>A
ENST00000678463.1:c.1301G>A	ENSP00000502984.1:p.Trp434Ter
ENST00000678568.1:c.*708G>A	ENSP00000504754.1:n.*708G>A
ENST00000678641.1:c.*645G>A	ENSP00000503159.1:n.*645G>A
ENST00000678763.1:n.1079G>A
XM_005257483.3:c.1301G>A	XP_005257540.1:p.Trp434Ter
XM_005257485.3:c.872G>A	XP_005257542.1:p.Trp291Ter
XM_005257485.4:c.872G>A	XP_005257542.1:p.Trp291Ter
XM_005257486.3:c.692G>A	XP_005257543.1:p.Trp231Ter
XM_006721965.2:c.692G>A	XP_006722028.1:p.Trp231Ter
XM_006721965.3:c.692G>A	XP_006722028.1:p.Trp231Ter
XM_011524957.1:c.1310G>A	XP_011523259.1:p.Trp437Ter
XM_011524957.2:c.1310G>A	XP_011523259.1:p.Trp437Ter
XM_011524958.1:c.1310G>A	XP_011523260.1:p.Trp437Ter
XM_011524958.2:c.1310G>A	XP_011523260.1:p.Trp437Ter
XM_011524959.1:c.1282+703G>A	XP_011523261.1:n.1282+703G>A
XM_011524959.2:c.1282+703G>A	XP_011523261.1:n.1282+703G>A
XM_017024805.1:c.872G>A	XP_016880294.1:p.Trp291Ter
XR_002958042.1:n.1312G>A