Canonical Allele Identifier: CA8669120

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58206508T>G , CM000679.2:g.58206508T>G	GRCh38
NC_000017.10:g.56283869T>G , CM000679.1:g.56283869T>G	GRCh37
NC_000017.9:g.53638868T>G	NCBI36
NG_013020.1:g.18781T>G
NG_013032.1:g.18098A>C , LRG_687:g.18098A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1447A>C MANE Select	NP_060247.2:p.Thr483Pro
ENST00000393119.7:c.1447A>C MANE Select	ENSP00000376827.2:p.Thr483Pro
NM_001165927.1:c.1417A>C , LRG_687t2:c.1417A>C	NP_001159399.1:p.Thr473Pro
NM_001321268.1:c.838A>C	NP_001308197.1:p.Thr280Pro
NM_001321268.2:c.838A>C	NP_001308197.1:p.Thr280Pro
NM_001321269.1:c.1408-128A>C	NP_001308198.1:n.1408-128A>C
NM_001321269.2:c.1408-128A>C	NP_001308198.1:n.1408-128A>C
NM_001330397.1:c.1274-128A>C	NP_001317326.1:n.1274-128A>C
NM_001330397.2:c.1274-128A>C	NP_001317326.1:n.1274-128A>C
NM_017777.3:c.1447A>C , LRG_687t1:c.1447A>C	NP_060247.2:p.Thr483Pro
ENST00000313863.10:c.1274-128A>C	ENSP00000316631.6:n.1274-128A>C
ENST00000313863.11:c.1274-128A>C	ENSP00000316631.6:n.1274-128A>C
ENST00000393119.6:c.1447A>C	ENSP00000376827.2:p.Thr483Pro
ENST00000393120.6:c.*854A>C	ENSP00000376828.2:n.*854A>C
ENST00000537529.6:c.1417A>C	ENSP00000442096.2:p.Thr473Pro
ENST00000537529.7:c.1018A>C	ENSP00000442096.3:p.Thr340Pro
ENST00000583577.1:n.273A>C
ENST00000675753.2:c.*1066A>C	ENSP00000502156.1:n.*1066A>C
ENST00000676787.1:c.1318A>C	ENSP00000503999.1:p.Thr440Pro
ENST00000677111.1:c.*921A>C	ENSP00000504282.1:n.*921A>C
ENST00000677160.1:n.2721A>C
ENST00000677416.1:n.2684A>C
ENST00000677486.1:c.*791A>C	ENSP00000503852.1:n.*791A>C
ENST00000677709.1:n.2147A>C
ENST00000678011.1:n.2347A>C
ENST00000678432.1:c.*1221A>C	ENSP00000504452.1:n.*1221A>C
ENST00000678463.1:c.1408-128A>C	ENSP00000502984.1:n.1408-128A>C
ENST00000678568.1:c.*815-128A>C	ENSP00000504754.1:n.*815-128A>C
ENST00000678641.1:c.*791A>C	ENSP00000503159.1:n.*791A>C
ENST00000678763.1:n.1762A>C
XM_005257483.3:c.1408-128A>C	XP_005257540.1:n.1408-128A>C
XM_005257485.3:c.979-128A>C	XP_005257542.1:n.979-128A>C
XM_005257485.4:c.979-128A>C	XP_005257542.1:n.979-128A>C
XM_005257486.3:c.838A>C	XP_005257543.1:p.Thr280Pro
XM_006721965.2:c.799-128A>C	XP_006722028.1:n.799-128A>C
XM_006721965.3:c.799-128A>C	XP_006722028.1:n.799-128A>C
XM_011524957.1:c.1417-128A>C	XP_011523259.1:n.1417-128A>C
XM_011524957.2:c.1417-128A>C	XP_011523259.1:n.1417-128A>C
XM_011524958.1:c.1456A>C	XP_011523260.1:p.Thr486Pro
XM_011524958.2:c.1456A>C	XP_011523260.1:p.Thr486Pro
XM_011524959.1:c.1283-128A>C	XP_011523261.1:n.1283-128A>C
XM_011524959.2:c.1283-128A>C	XP_011523261.1:n.1283-128A>C
XM_017024805.1:c.1018A>C	XP_016880294.1:p.Thr340Pro
XR_002958042.1:n.1419-128A>C