Canonical Allele Identifier: CA16026599
Community Standard Title: NM_000038.6(APC):c.2397T>A (p.Tyr799Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112837991T>A , CM000667.2:g.112837991T>A GRCh38
NC_000005.9:g.112173688T>A , CM000667.1:g.112173688T>A GRCh37
NC_000005.8:g.112201587T>A NCBI36
NG_008481.4:g.150471T>A , LRG_130:g.150471T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.2397T>A MANE Select NP_000029.2:p.Tyr799Ter
ENST00000257430.9:c.2397T>A MANE Select ENSP00000257430.4:p.Tyr799Ter
NM_000038.5:c.2397T>A NP_000029.2:p.Tyr799Ter
NM_001127510.2:c.2397T>A NP_001120982.1:p.Tyr799Ter
NM_001127510.3:c.2397T>A NP_001120982.1:p.Tyr799Ter
NM_001127511.2:c.2343T>A NP_001120983.2:p.Tyr781Ter
NM_001127511.3:c.2343T>A NP_001120983.2:p.Tyr781Ter
NM_001354895.1:c.2397T>A NP_001341824.1:p.Tyr799Ter
NM_001354895.2:c.2397T>A NP_001341824.1:p.Tyr799Ter
NM_001354896.1:c.2451T>A NP_001341825.1:p.Tyr817Ter
NM_001354896.2:c.2451T>A NP_001341825.1:p.Tyr817Ter
NM_001354897.1:c.2427T>A NP_001341826.1:p.Tyr809Ter
NM_001354897.2:c.2427T>A NP_001341826.1:p.Tyr809Ter
NM_001354898.1:c.2322T>A NP_001341827.1:p.Tyr774Ter
NM_001354898.2:c.2322T>A NP_001341827.1:p.Tyr774Ter
NM_001354899.1:c.2313T>A NP_001341828.1:p.Tyr771Ter
NM_001354899.2:c.2313T>A NP_001341828.1:p.Tyr771Ter
NM_001354900.1:c.2274T>A NP_001341829.1:p.Tyr758Ter
NM_001354900.2:c.2274T>A NP_001341829.1:p.Tyr758Ter
NM_001354901.1:c.2220T>A NP_001341830.1:p.Tyr740Ter
NM_001354901.2:c.2220T>A NP_001341830.1:p.Tyr740Ter
NM_001354902.1:c.2124T>A NP_001341831.1:p.Tyr708Ter
NM_001354902.2:c.2124T>A NP_001341831.1:p.Tyr708Ter
NM_001354903.1:c.2094T>A NP_001341832.1:p.Tyr698Ter
NM_001354903.2:c.2094T>A NP_001341832.1:p.Tyr698Ter
NM_001354904.1:c.2019T>A NP_001341833.1:p.Tyr673Ter
NM_001354904.2:c.2019T>A NP_001341833.1:p.Tyr673Ter
NM_001354905.1:c.1917T>A NP_001341834.1:p.Tyr639Ter
NM_001354905.2:c.1917T>A NP_001341834.1:p.Tyr639Ter
NM_001354906.1:c.1548T>A NP_001341835.1:p.Tyr516Ter
NM_001354906.2:c.1548T>A NP_001341835.1:p.Tyr516Ter
ENST00000257430.8:c.2397T>A ENSP00000257430.4:p.Tyr799Ter
ENST00000502371.2:c.750T>A
ENST00000502371.3:c.2062T>A ENSP00000484935.2:n.2062T>A
ENST00000504915.3:c.2451T>A ENSP00000473355.2:p.Tyr817Ter
ENST00000505350.2:c.*2403T>A ENSP00000481752.1:n.*2403T>A
ENST00000507379.5:c.2343T>A ENSP00000423224.1:p.Tyr781Ter
ENST00000507379.6:c.2343T>A ENSP00000423224.2:p.Tyr781Ter
ENST00000508376.6:c.2397T>A ENSP00000427089.2:p.Tyr799Ter
ENST00000508624.5:c.*1719T>A ENSP00000424265.1:n.*1719T>A
ENST00000509732.6:c.2397T>A ENSP00000426541.2:p.Tyr799Ter
ENST00000512211.6:c.2397T>A ENSP00000423828.2:p.Tyr799Ter
ENST00000512211.7:c.2397T>A ENSP00000423828.3:p.Tyr799Ter
ENST00000520401.1:c.230+9019T>A