Canonical Allele Identifier: CA16027659
Gene: APC HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112838492T>A , CM000667.2:g.112838492T>A GRCh38
NC_000005.9:g.112174189T>A , CM000667.1:g.112174189T>A GRCh37
NC_000005.8:g.112202088T>A NCBI36
NG_008481.4:g.150972T>A , LRG_130:g.150972T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.2563T>A ENSP00000484935.2:n.2563T>A
ENST00000504915.3:c.2952T>A ENSP00000473355.2:p.Ser984Arg
ENST00000505350.2:c.*2904T>A ENSP00000481752.1:n.*2904T>A
ENST00000507379.6:c.2844T>A ENSP00000423224.2:p.Ser948Arg
ENST00000509732.6:c.2898T>A ENSP00000426541.2:p.Ser966Arg
ENST00000512211.7:c.2898T>A ENSP00000423828.3:p.Ser966Arg
ENST00000257430.9:c.2898T>A MANE Select ENSP00000257430.4:p.Ser966Arg
ENST00000257430.8:c.2898T>A ENSP00000257430.4:p.Ser966Arg
ENST00000502371.2:c.1251T>A
ENST00000507379.5:c.2844T>A ENSP00000423224.1:p.Ser948Arg
ENST00000508376.6:c.2898T>A ENSP00000427089.2:p.Ser966Arg
ENST00000508624.5:c.*2220T>A ENSP00000424265.1:n.*2220T>A
ENST00000512211.6:c.2898T>A ENSP00000423828.2:p.Ser966Arg
ENST00000520401.1:c.230+9520T>A
NM_000038.5:c.2898T>A NP_000029.2:p.Ser966Arg
NM_001127510.2:c.2898T>A NP_001120982.1:p.Ser966Arg
NM_001127511.2:c.2844T>A NP_001120983.2:p.Ser948Arg
NM_001354895.1:c.2898T>A NP_001341824.1:p.Ser966Arg
NM_001354896.1:c.2952T>A NP_001341825.1:p.Ser984Arg
NM_001354897.1:c.2928T>A NP_001341826.1:p.Ser976Arg
NM_001354898.1:c.2823T>A NP_001341827.1:p.Ser941Arg
NM_001354899.1:c.2814T>A NP_001341828.1:p.Ser938Arg
NM_001354900.1:c.2775T>A NP_001341829.1:p.Ser925Arg
NM_001354901.1:c.2721T>A NP_001341830.1:p.Ser907Arg
NM_001354902.1:c.2625T>A NP_001341831.1:p.Ser875Arg
NM_001354903.1:c.2595T>A NP_001341832.1:p.Ser865Arg
NM_001354904.1:c.2520T>A NP_001341833.1:p.Ser840Arg
NM_001354905.1:c.2418T>A NP_001341834.1:p.Ser806Arg
NM_001354906.1:c.2049T>A NP_001341835.1:p.Ser683Arg
NM_000038.6:c.2898T>A MANE Select NP_000029.2:p.Ser966Arg
NM_001127510.3:c.2898T>A NP_001120982.1:p.Ser966Arg
NM_001127511.3:c.2844T>A NP_001120983.2:p.Ser948Arg
NM_001354895.2:c.2898T>A NP_001341824.1:p.Ser966Arg
NM_001354896.2:c.2952T>A NP_001341825.1:p.Ser984Arg
NM_001354897.2:c.2928T>A NP_001341826.1:p.Ser976Arg
NM_001354898.2:c.2823T>A NP_001341827.1:p.Ser941Arg
NM_001354899.2:c.2814T>A NP_001341828.1:p.Ser938Arg
NM_001354900.2:c.2775T>A NP_001341829.1:p.Ser925Arg
NM_001354901.2:c.2721T>A NP_001341830.1:p.Ser907Arg
NM_001354902.2:c.2625T>A NP_001341831.1:p.Ser875Arg
NM_001354903.2:c.2595T>A NP_001341832.1:p.Ser865Arg
NM_001354904.2:c.2520T>A NP_001341833.1:p.Ser840Arg
NM_001354905.2:c.2418T>A NP_001341834.1:p.Ser806Arg
NM_001354906.2:c.2049T>A NP_001341835.1:p.Ser683Arg