Canonical Allele Identifier: CA16024856
Community Standard Title: NM_000038.6(APC):c.1624C>T (p.Gln542Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828004C>T , CM000667.2:g.112828004C>T GRCh38
NC_000005.9:g.112163701C>T , CM000667.1:g.112163701C>T GRCh37
NC_000005.8:g.112191600C>T NCBI36
NG_008481.4:g.140484C>T , LRG_130:g.140484C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.1624C>T MANE Select NP_000029.2:p.Gln542Ter
ENST00000257430.9:c.1624C>T MANE Select ENSP00000257430.4:p.Gln542Ter
NM_000038.5:c.1624C>T NP_000029.2:p.Gln542Ter
NM_001127510.2:c.1624C>T NP_001120982.1:p.Gln542Ter
NM_001127510.3:c.1624C>T NP_001120982.1:p.Gln542Ter
NM_001127511.2:c.1570C>T NP_001120983.2:p.Gln524Ter
NM_001127511.3:c.1570C>T NP_001120983.2:p.Gln524Ter
NM_001354895.1:c.1624C>T NP_001341824.1:p.Gln542Ter
NM_001354895.2:c.1624C>T NP_001341824.1:p.Gln542Ter
NM_001354896.1:c.1678C>T NP_001341825.1:p.Gln560Ter
NM_001354896.2:c.1678C>T NP_001341825.1:p.Gln560Ter
NM_001354897.1:c.1654C>T NP_001341826.1:p.Gln552Ter
NM_001354897.2:c.1654C>T NP_001341826.1:p.Gln552Ter
NM_001354898.1:c.1549C>T NP_001341827.1:p.Gln517Ter
NM_001354898.2:c.1549C>T NP_001341827.1:p.Gln517Ter
NM_001354899.1:c.1540C>T NP_001341828.1:p.Gln514Ter
NM_001354899.2:c.1540C>T NP_001341828.1:p.Gln514Ter
NM_001354900.1:c.1501C>T NP_001341829.1:p.Gln501Ter
NM_001354900.2:c.1501C>T NP_001341829.1:p.Gln501Ter
NM_001354901.1:c.1447C>T NP_001341830.1:p.Gln483Ter
NM_001354901.2:c.1447C>T NP_001341830.1:p.Gln483Ter
NM_001354902.1:c.1351C>T NP_001341831.1:p.Gln451Ter
NM_001354902.2:c.1351C>T NP_001341831.1:p.Gln451Ter
NM_001354903.1:c.1321C>T NP_001341832.1:p.Gln441Ter
NM_001354903.2:c.1321C>T NP_001341832.1:p.Gln441Ter
NM_001354904.1:c.1246C>T NP_001341833.1:p.Gln416Ter
NM_001354904.2:c.1246C>T NP_001341833.1:p.Gln416Ter
NM_001354905.1:c.1144C>T NP_001341834.1:p.Gln382Ter
NM_001354905.2:c.1144C>T NP_001341834.1:p.Gln382Ter
NM_001354906.1:c.775C>T NP_001341835.1:p.Gln259Ter
NM_001354906.2:c.775C>T NP_001341835.1:p.Gln259Ter
ENST00000257430.8:c.1624C>T ENSP00000257430.4:p.Gln542Ter
ENST00000502371.2:c.96+6013C>T
ENST00000502371.3:c.1408+6013C>T ENSP00000484935.2:n.1408+6013C>T
ENST00000504915.2:c.313C>T ENSP00000473355.1:p.Gln105Ter
ENST00000504915.3:c.1678C>T ENSP00000473355.2:p.Gln560Ter
ENST00000505084.1:n.111C>T
ENST00000505084.2:n.1680C>T
ENST00000505350.2:c.*1630C>T ENSP00000481752.1:n.*1630C>T
ENST00000507379.5:c.1570C>T ENSP00000423224.1:p.Gln524Ter
ENST00000507379.6:c.1570C>T ENSP00000423224.2:p.Gln524Ter
ENST00000508376.6:c.1624C>T ENSP00000427089.2:p.Gln542Ter
ENST00000508624.5:c.*946C>T ENSP00000424265.1:n.*946C>T
ENST00000509732.6:c.1624C>T ENSP00000426541.2:p.Gln542Ter
ENST00000512211.6:c.1624C>T ENSP00000423828.2:p.Gln542Ter
ENST00000512211.7:c.1624C>T ENSP00000423828.3:p.Gln542Ter
ENST00000520401.1:c.111C>T