Canonical Allele Identifier: CA400326830
Community Standard Title: NM_017777.4(MKS1):c.639T>A (p.Tyr213Ter)
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58214264A>T , CM000679.2:g.58214264A>T GRCh38
NC_000017.10:g.56291625A>T , CM000679.1:g.56291625A>T GRCh37
NC_000017.9:g.53646624A>T NCBI36
NG_013032.1:g.10342T>A , LRG_687:g.10342T>A

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.639T>A MANE Select NP_060247.2:p.Tyr213Ter
ENST00000393119.7:c.639T>A MANE Select ENSP00000376827.2:p.Tyr213Ter
NM_001165927.1:c.609T>A , LRG_687t2:c.609T>A NP_001159399.1:p.Tyr203Ter
NM_001321268.1:c.30T>A NP_001308197.1:p.Tyr10Ter
NM_001321268.2:c.30T>A NP_001308197.1:p.Tyr10Ter
NM_001321269.1:c.639T>A NP_001308198.1:p.Tyr213Ter
NM_001321269.2:c.639T>A NP_001308198.1:p.Tyr213Ter
NM_001330397.1:c.639T>A NP_001317326.1:p.Tyr213Ter
NM_001330397.2:c.639T>A NP_001317326.1:p.Tyr213Ter
NM_017777.3:c.639T>A , LRG_687t1:c.639T>A NP_060247.2:p.Tyr213Ter
ENST00000313863.10:c.639T>A ENSP00000316631.6:p.Tyr213Ter
ENST00000313863.11:c.639T>A ENSP00000316631.6:p.Tyr213Ter
ENST00000393119.6:c.639T>A ENSP00000376827.2:p.Tyr213Ter
ENST00000393120.6:c.*46T>A ENSP00000376828.2:n.*46T>A
ENST00000537529.6:c.609T>A ENSP00000442096.2:p.Tyr203Ter
ENST00000537529.7:c.210T>A ENSP00000442096.3:p.Tyr70Ter
ENST00000577824.5:c.116T>A
ENST00000578789.1:c.*382T>A ENSP00000462411.1:n.*382T>A
ENST00000580127.5:c.*258T>A ENSP00000462423.1:n.*258T>A
ENST00000580127.6:c.639T>A ENSP00000462423.2:p.Tyr213Ter
ENST00000581761.5:c.*46T>A ENSP00000462129.1:n.*46T>A
ENST00000581761.6:c.639T>A ENSP00000462129.2:p.Tyr213Ter
ENST00000585134.2:c.639T>A ENSP00000463826.2:p.Tyr213Ter
ENST00000675753.2:c.*258T>A ENSP00000502156.1:n.*258T>A
ENST00000676787.1:c.516-395T>A ENSP00000503999.1:n.516-395T>A
ENST00000676975.1:c.504T>A ENSP00000503970.1:n.504T>A
ENST00000677076.1:n.1913T>A
ENST00000677111.1:c.639T>A ENSP00000504282.1:p.Tyr213Ter
ENST00000677160.1:n.1913T>A
ENST00000677416.1:n.664T>A
ENST00000677475.1:n.1916T>A
ENST00000677486.1:c.262-395T>A ENSP00000503852.1:n.262-395T>A
ENST00000677546.1:c.418-395T>A ENSP00000504043.1:n.418-395T>A
ENST00000677709.1:n.664T>A
ENST00000678011.1:n.664T>A
ENST00000678211.1:n.2688T>A
ENST00000678432.1:c.*258T>A ENSP00000504452.1:n.*258T>A
ENST00000678463.1:c.639T>A ENSP00000502984.1:p.Tyr213Ter
ENST00000678481.1:n.446-395T>A
ENST00000678568.1:c.*46T>A ENSP00000504754.1:n.*46T>A
ENST00000678641.1:c.418-395T>A ENSP00000503159.1:n.418-395T>A
ENST00000678928.1:n.2266T>A
ENST00000679081.1:n.2266T>A
XM_005257483.3:c.639T>A XP_005257540.1:p.Tyr213Ter
XM_005257485.3:c.210T>A XP_005257542.1:p.Tyr70Ter
XM_005257485.4:c.210T>A XP_005257542.1:p.Tyr70Ter
XM_005257486.3:c.30T>A XP_005257543.1:p.Tyr10Ter
XM_006721965.2:c.30T>A XP_006722028.1:p.Tyr10Ter
XM_006721965.3:c.30T>A XP_006722028.1:p.Tyr10Ter
XM_011524957.1:c.648T>A XP_011523259.1:p.Tyr216Ter
XM_011524957.2:c.648T>A XP_011523259.1:p.Tyr216Ter
XM_011524958.1:c.648T>A XP_011523260.1:p.Tyr216Ter
XM_011524958.2:c.648T>A XP_011523260.1:p.Tyr216Ter
XM_011524959.1:c.648T>A XP_011523261.1:p.Tyr216Ter
XM_011524959.2:c.648T>A XP_011523261.1:p.Tyr216Ter
XM_011524960.1:c.648T>A XP_011523262.1:p.Tyr216Ter
XM_011524960.2:c.648T>A XP_011523262.1:p.Tyr216Ter
XM_017024804.2:c.639T>A XP_016880293.1:p.Tyr213Ter
XM_017024805.1:c.210T>A XP_016880294.1:p.Tyr70Ter
XR_002958042.1:n.693T>A
XR_934494.1:n.696T>A