Canonical Allele Identifier: CA400324844

Gene: MKS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.58207109A>T , CM000679.2:g.58207109A>T	GRCh38
NC_000017.10:g.56284470A>T , CM000679.1:g.56284470A>T	GRCh37
NC_000017.9:g.53639469A>T	NCBI36
NG_013020.1:g.19382A>T
NG_013032.1:g.17497T>A , LRG_687:g.17497T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017777.4:c.1383T>A MANE Select	NP_060247.2:p.Tyr461Ter
ENST00000393119.7:c.1383T>A MANE Select	ENSP00000376827.2:p.Tyr461Ter
NM_001165927.1:c.1353T>A , LRG_687t2:c.1353T>A	NP_001159399.1:p.Tyr451Ter
NM_001321268.1:c.774T>A	NP_001308197.1:p.Tyr258Ter
NM_001321268.2:c.774T>A	NP_001308197.1:p.Tyr258Ter
NM_001321269.1:c.1383T>A	NP_001308198.1:p.Tyr461Ter
NM_001321269.2:c.1383T>A	NP_001308198.1:p.Tyr461Ter
NM_001330397.1:c.1274-729T>A	NP_001317326.1:n.1274-729T>A
NM_001330397.2:c.1274-729T>A	NP_001317326.1:n.1274-729T>A
NM_017777.3:c.1383T>A , LRG_687t1:c.1383T>A	NP_060247.2:p.Tyr461Ter
ENST00000313863.10:c.1274-729T>A	ENSP00000316631.6:n.1274-729T>A
ENST00000313863.11:c.1274-729T>A	ENSP00000316631.6:n.1274-729T>A
ENST00000393119.6:c.1383T>A	ENSP00000376827.2:p.Tyr461Ter
ENST00000393120.6:c.*790T>A	ENSP00000376828.2:n.*790T>A
ENST00000537529.6:c.1353T>A	ENSP00000442096.2:p.Tyr451Ter
ENST00000537529.7:c.954T>A	ENSP00000442096.3:p.Tyr318Ter
ENST00000675753.2:c.*1002T>A	ENSP00000502156.1:n.*1002T>A
ENST00000676787.1:c.1254T>A	ENSP00000503999.1:p.Tyr418Ter
ENST00000677111.1:c.*320T>A	ENSP00000504282.1:n.*320T>A
ENST00000677160.1:n.2657T>A
ENST00000677416.1:n.2083T>A
ENST00000677486.1:c.*727T>A	ENSP00000503852.1:n.*727T>A
ENST00000677709.1:n.2083T>A
ENST00000678011.1:n.1746T>A
ENST00000678432.1:c.*1157T>A	ENSP00000504452.1:n.*1157T>A
ENST00000678463.1:c.1383T>A	ENSP00000502984.1:p.Tyr461Ter
ENST00000678568.1:c.*790T>A	ENSP00000504754.1:n.*790T>A
ENST00000678641.1:c.*727T>A	ENSP00000503159.1:n.*727T>A
ENST00000678763.1:n.1161T>A
XM_005257483.3:c.1383T>A	XP_005257540.1:p.Tyr461Ter
XM_005257485.3:c.954T>A	XP_005257542.1:p.Tyr318Ter
XM_005257485.4:c.954T>A	XP_005257542.1:p.Tyr318Ter
XM_005257486.3:c.774T>A	XP_005257543.1:p.Tyr258Ter
XM_006721965.2:c.774T>A	XP_006722028.1:p.Tyr258Ter
XM_006721965.3:c.774T>A	XP_006722028.1:p.Tyr258Ter
XM_011524957.1:c.1392T>A	XP_011523259.1:p.Tyr464Ter
XM_011524957.2:c.1392T>A	XP_011523259.1:p.Tyr464Ter
XM_011524958.1:c.1392T>A	XP_011523260.1:p.Tyr464Ter
XM_011524958.2:c.1392T>A	XP_011523260.1:p.Tyr464Ter
XM_011524959.1:c.1283-729T>A	XP_011523261.1:n.1283-729T>A
XM_011524959.2:c.1283-729T>A	XP_011523261.1:n.1283-729T>A
XM_017024805.1:c.954T>A	XP_016880294.1:p.Tyr318Ter
XR_002958042.1:n.1394T>A