Canonical Allele Identifier: CA400325823
Community Standard Title: NM_017777.4(MKS1):c.1074C>A (p.Cys358Ter)
Gene: MKS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.58208534G>T , CM000679.2:g.58208534G>T GRCh38
NC_000017.10:g.56285895G>T , CM000679.1:g.56285895G>T GRCh37
NC_000017.9:g.53640894G>T NCBI36
NG_013032.1:g.16072C>A , LRG_687:g.16072C>A

Transcript Alleles

HGVS Amino-acid Change
NM_017777.4:c.1074C>A MANE Select NP_060247.2:p.Cys358Ter
ENST00000393119.7:c.1074C>A MANE Select ENSP00000376827.2:p.Cys358Ter
NM_001165927.1:c.1044C>A , LRG_687t2:c.1044C>A NP_001159399.1:p.Cys348Ter
NM_001321268.1:c.465C>A NP_001308197.1:p.Cys155Ter
NM_001321268.2:c.465C>A NP_001308197.1:p.Cys155Ter
NM_001321269.1:c.1074C>A NP_001308198.1:p.Cys358Ter
NM_001321269.2:c.1074C>A NP_001308198.1:p.Cys358Ter
NM_001330397.1:c.1074C>A NP_001317326.1:p.Cys358Ter
NM_001330397.2:c.1074C>A NP_001317326.1:p.Cys358Ter
NM_017777.3:c.1074C>A , LRG_687t1:c.1074C>A NP_060247.2:p.Cys358Ter
ENST00000313863.10:c.1074C>A ENSP00000316631.6:p.Cys358Ter
ENST00000313863.11:c.1074C>A ENSP00000316631.6:p.Cys358Ter
ENST00000393119.6:c.1074C>A ENSP00000376827.2:p.Cys358Ter
ENST00000393120.6:c.*481C>A ENSP00000376828.2:n.*481C>A
ENST00000537529.6:c.1044C>A ENSP00000442096.2:p.Cys348Ter
ENST00000537529.7:c.645C>A ENSP00000442096.3:p.Cys215Ter
ENST00000577315.5:c.127C>A
ENST00000577824.5:c.551C>A
ENST00000579358.1:n.512C>A
ENST00000580127.6:c.1074C>A ENSP00000462423.2:p.Cys358Ter
ENST00000585134.1:c.297C>A ENSP00000463826.1:p.Cys99Ter
ENST00000585134.2:c.1074C>A ENSP00000463826.2:p.Cys358Ter
ENST00000675753.2:c.*693C>A ENSP00000502156.1:n.*693C>A
ENST00000676787.1:c.945C>A ENSP00000503999.1:p.Cys315Ter
ENST00000677111.1:c.*11C>A ENSP00000504282.1:n.*11C>A
ENST00000677160.1:n.2348C>A
ENST00000677416.1:n.1099C>A
ENST00000677486.1:c.*418C>A ENSP00000503852.1:n.*418C>A
ENST00000677709.1:n.1099C>A
ENST00000678011.1:n.1099C>A
ENST00000678432.1:c.*693C>A ENSP00000504452.1:n.*693C>A
ENST00000678463.1:c.1074C>A ENSP00000502984.1:p.Cys358Ter
ENST00000678568.1:c.*481C>A ENSP00000504754.1:n.*481C>A
ENST00000678641.1:c.*418C>A ENSP00000503159.1:n.*418C>A
ENST00000678763.1:n.852C>A
XM_005257483.3:c.1074C>A XP_005257540.1:p.Cys358Ter
XM_005257485.3:c.645C>A XP_005257542.1:p.Cys215Ter
XM_005257485.4:c.645C>A XP_005257542.1:p.Cys215Ter
XM_005257486.3:c.465C>A XP_005257543.1:p.Cys155Ter
XM_006721965.2:c.465C>A XP_006722028.1:p.Cys155Ter
XM_006721965.3:c.465C>A XP_006722028.1:p.Cys155Ter
XM_011524957.1:c.1083C>A XP_011523259.1:p.Cys361Ter
XM_011524957.2:c.1083C>A XP_011523259.1:p.Cys361Ter
XM_011524958.1:c.1083C>A XP_011523260.1:p.Cys361Ter
XM_011524958.2:c.1083C>A XP_011523260.1:p.Cys361Ter
XM_011524959.1:c.1083C>A XP_011523261.1:p.Cys361Ter
XM_011524959.2:c.1083C>A XP_011523261.1:p.Cys361Ter
XM_011524960.1:c.1083C>A XP_011523262.1:p.Cys361Ter
XM_011524960.2:c.1083C>A XP_011523262.1:p.Cys361Ter
XM_017024804.2:c.1074C>A XP_016880293.1:p.Cys358Ter
XM_017024805.1:c.645C>A XP_016880294.1:p.Cys215Ter
XR_002958042.1:n.1085C>A
XR_934494.1:n.1088C>A