Canonical Allele Identifier: CA039552
Community Standard Title: NM_000038.6(APC):c.4670T>C (p.Ile1557Thr)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840264T>C , CM000667.2:g.112840264T>C GRCh38
NC_000005.9:g.112175961T>C , CM000667.1:g.112175961T>C GRCh37
NC_000005.8:g.112203860T>C NCBI36
NG_008481.4:g.152744T>C , LRG_130:g.152744T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4670T>C MANE Select NP_000029.2:p.Ile1557Thr
ENST00000257430.9:c.4670T>C MANE Select ENSP00000257430.4:p.Ile1557Thr
NM_000038.5:c.4670T>C NP_000029.2:p.Ile1557Thr
NM_001127510.2:c.4670T>C NP_001120982.1:p.Ile1557Thr
NM_001127510.3:c.4670T>C NP_001120982.1:p.Ile1557Thr
NM_001127511.2:c.4616T>C NP_001120983.2:p.Ile1539Thr
NM_001127511.3:c.4616T>C NP_001120983.2:p.Ile1539Thr
NM_001354895.1:c.4670T>C NP_001341824.1:p.Ile1557Thr
NM_001354895.2:c.4670T>C NP_001341824.1:p.Ile1557Thr
NM_001354896.1:c.4724T>C NP_001341825.1:p.Ile1575Thr
NM_001354896.2:c.4724T>C NP_001341825.1:p.Ile1575Thr
NM_001354897.1:c.4700T>C NP_001341826.1:p.Ile1567Thr
NM_001354897.2:c.4700T>C NP_001341826.1:p.Ile1567Thr
NM_001354898.1:c.4595T>C NP_001341827.1:p.Ile1532Thr
NM_001354898.2:c.4595T>C NP_001341827.1:p.Ile1532Thr
NM_001354899.1:c.4586T>C NP_001341828.1:p.Ile1529Thr
NM_001354899.2:c.4586T>C NP_001341828.1:p.Ile1529Thr
NM_001354900.1:c.4547T>C NP_001341829.1:p.Ile1516Thr
NM_001354900.2:c.4547T>C NP_001341829.1:p.Ile1516Thr
NM_001354901.1:c.4493T>C NP_001341830.1:p.Ile1498Thr
NM_001354901.2:c.4493T>C NP_001341830.1:p.Ile1498Thr
NM_001354902.1:c.4397T>C NP_001341831.1:p.Ile1466Thr
NM_001354902.2:c.4397T>C NP_001341831.1:p.Ile1466Thr
NM_001354903.1:c.4367T>C NP_001341832.1:p.Ile1456Thr
NM_001354903.2:c.4367T>C NP_001341832.1:p.Ile1456Thr
NM_001354904.1:c.4292T>C NP_001341833.1:p.Ile1431Thr
NM_001354904.2:c.4292T>C NP_001341833.1:p.Ile1431Thr
NM_001354905.1:c.4190T>C NP_001341834.1:p.Ile1397Thr
NM_001354905.2:c.4190T>C NP_001341834.1:p.Ile1397Thr
NM_001354906.1:c.3821T>C NP_001341835.1:p.Ile1274Thr
NM_001354906.2:c.3821T>C NP_001341835.1:p.Ile1274Thr
ENST00000257430.8:c.4670T>C ENSP00000257430.4:p.Ile1557Thr
ENST00000504915.3:c.4724T>C ENSP00000473355.2:p.Ile1575Thr
ENST00000505350.2:c.*4676T>C ENSP00000481752.1:n.*4676T>C
ENST00000507379.6:c.4616T>C ENSP00000423224.2:p.Ile1539Thr
ENST00000508376.6:c.4670T>C ENSP00000427089.2:p.Ile1557Thr
ENST00000508624.5:c.*3992T>C ENSP00000424265.1:n.*3992T>C
ENST00000509732.6:c.4670T>C ENSP00000426541.2:p.Ile1557Thr
ENST00000512211.7:c.4670T>C ENSP00000423828.3:p.Ile1557Thr
ENST00000520401.1:c.230+11292T>C