Canonical Allele Identifier: CA400327737
Community Standard Title: NM_017777.4(MKS1):c.240G>C (p.Trp80Cys)
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58216687C>G , CM000679.2:g.58216687C>G GRCh38
NC_000017.10:g.56294048C>G , CM000679.1:g.56294048C>G GRCh37
NC_000017.9:g.53649047C>G NCBI36
NG_013032.1:g.7919G>C , LRG_687:g.7919G>C

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.240G>C MANE Select NP_060247.2:p.Trp80Cys
ENST00000393119.7:c.240G>C MANE Select ENSP00000376827.2:p.Trp80Cys
NM_001165927.1:c.210G>C , LRG_687t2:c.210G>C NP_001159399.1:p.Trp70Cys
NM_001321268.1:c.-272G>C NP_001308197.1:n.-272G>C
NM_001321268.2:c.-272G>C NP_001308197.1:n.-272G>C
NM_001321269.1:c.240G>C NP_001308198.1:p.Trp80Cys
NM_001321269.2:c.240G>C NP_001308198.1:p.Trp80Cys
NM_001330397.1:c.240G>C NP_001317326.1:p.Trp80Cys
NM_001330397.2:c.240G>C NP_001317326.1:p.Trp80Cys
NM_017777.3:c.240G>C , LRG_687t1:c.240G>C NP_060247.2:p.Trp80Cys
ENST00000313863.10:c.240G>C ENSP00000316631.6:p.Trp80Cys
ENST00000313863.11:c.240G>C ENSP00000316631.6:p.Trp80Cys
ENST00000393119.6:c.240G>C ENSP00000376827.2:p.Trp80Cys
ENST00000393120.6:c.240G>C ENSP00000376828.2:p.Trp80Cys
ENST00000537529.6:c.210G>C ENSP00000442096.2:p.Trp70Cys
ENST00000537529.7:c.-190G>C ENSP00000442096.3:n.-190G>C
ENST00000578789.1:c.130G>C ENSP00000462411.1:p.Ala44Pro
ENST00000580127.5:c.240G>C ENSP00000462423.1:p.Trp80Cys
ENST00000580127.6:c.240G>C ENSP00000462423.2:p.Trp80Cys
ENST00000581180.1:n.240G>C
ENST00000581180.2:c.240G>C ENSP00000502288.1:p.Trp80Cys
ENST00000581761.5:c.191-1849G>C ENSP00000462129.1:n.191-1849G>C
ENST00000581761.6:c.240G>C ENSP00000462129.2:p.Trp80Cys
ENST00000585134.2:c.240G>C ENSP00000463826.2:p.Trp80Cys
ENST00000675753.2:c.240G>C ENSP00000502156.1:p.Trp80Cys
ENST00000676787.1:c.240G>C ENSP00000503999.1:p.Trp80Cys
ENST00000677076.1:n.265G>C
ENST00000677111.1:c.240G>C ENSP00000504282.1:p.Trp80Cys
ENST00000677160.1:n.265G>C
ENST00000677416.1:n.265G>C
ENST00000677475.1:n.268G>C
ENST00000677486.1:c.240G>C ENSP00000503852.1:p.Trp80Cys
ENST00000677546.1:c.240G>C ENSP00000504043.1:p.Trp80Cys
ENST00000677709.1:n.265G>C
ENST00000677791.1:n.268G>C
ENST00000678011.1:n.265G>C
ENST00000678211.1:n.265G>C
ENST00000678432.1:c.240G>C ENSP00000504452.1:p.Trp80Cys
ENST00000678463.1:c.240G>C ENSP00000502984.1:p.Trp80Cys
ENST00000678481.1:n.268G>C
ENST00000678568.1:c.191-1849G>C ENSP00000504754.1:n.191-1849G>C
ENST00000678641.1:c.240G>C ENSP00000503159.1:p.Trp80Cys
ENST00000678928.1:n.265G>C
ENST00000679081.1:n.265G>C
XM_005257483.3:c.240G>C XP_005257540.1:p.Trp80Cys
XM_005257485.3:c.-250G>C XP_005257542.1:n.-250G>C
XM_005257485.4:c.-250G>C XP_005257542.1:n.-250G>C
XM_005257486.3:c.-272G>C XP_005257543.1:n.-272G>C
XM_006721965.2:c.-272G>C XP_006722028.1:n.-272G>C
XM_006721965.3:c.-272G>C XP_006722028.1:n.-272G>C
XM_011524957.1:c.249G>C XP_011523259.1:p.Trp83Cys
XM_011524957.2:c.249G>C XP_011523259.1:p.Trp83Cys
XM_011524958.1:c.249G>C XP_011523260.1:p.Trp83Cys
XM_011524958.2:c.249G>C XP_011523260.1:p.Trp83Cys
XM_011524959.1:c.249G>C XP_011523261.1:p.Trp83Cys
XM_011524959.2:c.249G>C XP_011523261.1:p.Trp83Cys
XM_011524960.1:c.249G>C XP_011523262.1:p.Trp83Cys
XM_011524960.2:c.249G>C XP_011523262.1:p.Trp83Cys
XM_017024804.2:c.240G>C XP_016880293.1:p.Trp80Cys
XM_017024805.1:c.-250G>C XP_016880294.1:n.-250G>C
XR_002958042.1:n.294G>C
XR_934494.1:n.297G>C