Canonical Allele Identifier: CA16031444
Community Standard Title: NM_000038.6(APC):c.4616C>A (p.Ser1539Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840210C>A , CM000667.2:g.112840210C>A GRCh38
NC_000005.9:g.112175907C>A , CM000667.1:g.112175907C>A GRCh37
NC_000005.8:g.112203806C>A NCBI36
NG_008481.4:g.152690C>A , LRG_130:g.152690C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4616C>A MANE Select NP_000029.2:p.Ser1539Ter
ENST00000257430.9:c.4616C>A MANE Select ENSP00000257430.4:p.Ser1539Ter
NM_000038.5:c.4616C>A NP_000029.2:p.Ser1539Ter
NM_001127510.2:c.4616C>A NP_001120982.1:p.Ser1539Ter
NM_001127510.3:c.4616C>A NP_001120982.1:p.Ser1539Ter
NM_001127511.2:c.4562C>A NP_001120983.2:p.Ser1521Ter
NM_001127511.3:c.4562C>A NP_001120983.2:p.Ser1521Ter
NM_001354895.1:c.4616C>A NP_001341824.1:p.Ser1539Ter
NM_001354895.2:c.4616C>A NP_001341824.1:p.Ser1539Ter
NM_001354896.1:c.4670C>A NP_001341825.1:p.Ser1557Ter
NM_001354896.2:c.4670C>A NP_001341825.1:p.Ser1557Ter
NM_001354897.1:c.4646C>A NP_001341826.1:p.Ser1549Ter
NM_001354897.2:c.4646C>A NP_001341826.1:p.Ser1549Ter
NM_001354898.1:c.4541C>A NP_001341827.1:p.Ser1514Ter
NM_001354898.2:c.4541C>A NP_001341827.1:p.Ser1514Ter
NM_001354899.1:c.4532C>A NP_001341828.1:p.Ser1511Ter
NM_001354899.2:c.4532C>A NP_001341828.1:p.Ser1511Ter
NM_001354900.1:c.4493C>A NP_001341829.1:p.Ser1498Ter
NM_001354900.2:c.4493C>A NP_001341829.1:p.Ser1498Ter
NM_001354901.1:c.4439C>A NP_001341830.1:p.Ser1480Ter
NM_001354901.2:c.4439C>A NP_001341830.1:p.Ser1480Ter
NM_001354902.1:c.4343C>A NP_001341831.1:p.Ser1448Ter
NM_001354902.2:c.4343C>A NP_001341831.1:p.Ser1448Ter
NM_001354903.1:c.4313C>A NP_001341832.1:p.Ser1438Ter
NM_001354903.2:c.4313C>A NP_001341832.1:p.Ser1438Ter
NM_001354904.1:c.4238C>A NP_001341833.1:p.Ser1413Ter
NM_001354904.2:c.4238C>A NP_001341833.1:p.Ser1413Ter
NM_001354905.1:c.4136C>A NP_001341834.1:p.Ser1379Ter
NM_001354905.2:c.4136C>A NP_001341834.1:p.Ser1379Ter
NM_001354906.1:c.3767C>A NP_001341835.1:p.Ser1256Ter
NM_001354906.2:c.3767C>A NP_001341835.1:p.Ser1256Ter
ENST00000257430.8:c.4616C>A ENSP00000257430.4:p.Ser1539Ter
ENST00000504915.3:c.4670C>A ENSP00000473355.2:p.Ser1557Ter
ENST00000505350.2:c.*4622C>A ENSP00000481752.1:n.*4622C>A
ENST00000507379.6:c.4562C>A ENSP00000423224.2:p.Ser1521Ter
ENST00000508376.6:c.4616C>A ENSP00000427089.2:p.Ser1539Ter
ENST00000508624.5:c.*3938C>A ENSP00000424265.1:n.*3938C>A
ENST00000509732.6:c.4616C>A ENSP00000426541.2:p.Ser1539Ter
ENST00000512211.7:c.4616C>A ENSP00000423828.3:p.Ser1539Ter
ENST00000520401.1:c.230+11238C>A