Canonical Allele Identifier: CA445964247
Community Standard Title: NM_000038.6(APC):c.4248C>T (p.Gly1416=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839842C>T , CM000667.2:g.112839842C>T GRCh38
NC_000005.9:g.112175539C>T , CM000667.1:g.112175539C>T GRCh37
NC_000005.8:g.112203438C>T NCBI36
NG_008481.4:g.152322C>T , LRG_130:g.152322C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4248C>T MANE Select NP_000029.2:p.Gly1416=
ENST00000257430.9:c.4248C>T MANE Select ENSP00000257430.4:p.Gly1416=
NM_000038.5:c.4248C>T NP_000029.2:p.Gly1416=
NM_001127510.2:c.4248C>T NP_001120982.1:p.Gly1416=
NM_001127510.3:c.4248C>T NP_001120982.1:p.Gly1416=
NM_001127511.2:c.4194C>T NP_001120983.2:p.Gly1398=
NM_001127511.3:c.4194C>T NP_001120983.2:p.Gly1398=
NM_001354895.1:c.4248C>T NP_001341824.1:p.Gly1416=
NM_001354895.2:c.4248C>T NP_001341824.1:p.Gly1416=
NM_001354896.1:c.4302C>T NP_001341825.1:p.Gly1434=
NM_001354896.2:c.4302C>T NP_001341825.1:p.Gly1434=
NM_001354897.1:c.4278C>T NP_001341826.1:p.Gly1426=
NM_001354897.2:c.4278C>T NP_001341826.1:p.Gly1426=
NM_001354898.1:c.4173C>T NP_001341827.1:p.Gly1391=
NM_001354898.2:c.4173C>T NP_001341827.1:p.Gly1391=
NM_001354899.1:c.4164C>T NP_001341828.1:p.Gly1388=
NM_001354899.2:c.4164C>T NP_001341828.1:p.Gly1388=
NM_001354900.1:c.4125C>T NP_001341829.1:p.Gly1375=
NM_001354900.2:c.4125C>T NP_001341829.1:p.Gly1375=
NM_001354901.1:c.4071C>T NP_001341830.1:p.Gly1357=
NM_001354901.2:c.4071C>T NP_001341830.1:p.Gly1357=
NM_001354902.1:c.3975C>T NP_001341831.1:p.Gly1325=
NM_001354902.2:c.3975C>T NP_001341831.1:p.Gly1325=
NM_001354903.1:c.3945C>T NP_001341832.1:p.Gly1315=
NM_001354903.2:c.3945C>T NP_001341832.1:p.Gly1315=
NM_001354904.1:c.3870C>T NP_001341833.1:p.Gly1290=
NM_001354904.2:c.3870C>T NP_001341833.1:p.Gly1290=
NM_001354905.1:c.3768C>T NP_001341834.1:p.Gly1256=
NM_001354905.2:c.3768C>T NP_001341834.1:p.Gly1256=
NM_001354906.1:c.3399C>T NP_001341835.1:p.Gly1133=
NM_001354906.2:c.3399C>T NP_001341835.1:p.Gly1133=
ENST00000257430.8:c.4248C>T ENSP00000257430.4:p.Gly1416=
ENST00000502371.2:c.2601C>T
ENST00000502371.3:c.3913C>T ENSP00000484935.2:n.3913C>T
ENST00000504915.3:c.4302C>T ENSP00000473355.2:p.Gly1434=
ENST00000505350.2:c.*4254C>T ENSP00000481752.1:n.*4254C>T
ENST00000507379.6:c.4194C>T ENSP00000423224.2:p.Gly1398=
ENST00000508376.6:c.4248C>T ENSP00000427089.2:p.Gly1416=
ENST00000508624.5:c.*3570C>T ENSP00000424265.1:n.*3570C>T
ENST00000509732.6:c.4248C>T ENSP00000426541.2:p.Gly1416=
ENST00000512211.7:c.4248C>T ENSP00000423828.3:p.Gly1416=
ENST00000520401.1:c.230+10870C>T