Canonical Allele Identifier: CA010538
Gene: APC HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841202G>A , CM000667.2:g.112841202G>A GRCh38
NC_000005.9:g.112176899G>A , CM000667.1:g.112176899G>A GRCh37
NC_000005.8:g.112204798G>A NCBI36
NG_008481.4:g.153682G>A , LRG_130:g.153682G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5662G>A ENSP00000473355.2:p.Asp1888Asn
ENST00000505350.2:c.*5614G>A ENSP00000481752.1:n.*5614G>A
ENST00000507379.6:c.5554G>A ENSP00000423224.2:p.Asp1852Asn
ENST00000509732.6:c.5608G>A ENSP00000426541.2:p.Asp1870Asn
ENST00000512211.7:c.5608G>A ENSP00000423828.3:p.Asp1870Asn
ENST00000257430.9:c.5608G>A MANE Select ENSP00000257430.4:p.Asp1870Asn
ENST00000257430.8:c.5608G>A ENSP00000257430.4:p.Asp1870Asn
ENST00000508376.6:c.5608G>A ENSP00000427089.2:p.Asp1870Asn
ENST00000508624.5:c.*4930G>A ENSP00000424265.1:n.*4930G>A
ENST00000520401.1:c.230+12230G>A
NM_000038.5:c.5608G>A NP_000029.2:p.Asp1870Asn
NM_001127510.2:c.5608G>A NP_001120982.1:p.Asp1870Asn
NM_001127511.2:c.5554G>A NP_001120983.2:p.Asp1852Asn
NM_001354895.1:c.5608G>A NP_001341824.1:p.Asp1870Asn
NM_001354896.1:c.5662G>A NP_001341825.1:p.Asp1888Asn
NM_001354897.1:c.5638G>A NP_001341826.1:p.Asp1880Asn
NM_001354898.1:c.5533G>A NP_001341827.1:p.Asp1845Asn
NM_001354899.1:c.5524G>A NP_001341828.1:p.Asp1842Asn
NM_001354900.1:c.5485G>A NP_001341829.1:p.Asp1829Asn
NM_001354901.1:c.5431G>A NP_001341830.1:p.Asp1811Asn
NM_001354902.1:c.5335G>A NP_001341831.1:p.Asp1779Asn
NM_001354903.1:c.5305G>A NP_001341832.1:p.Asp1769Asn
NM_001354904.1:c.5230G>A NP_001341833.1:p.Asp1744Asn
NM_001354905.1:c.5128G>A NP_001341834.1:p.Asp1710Asn
NM_001354906.1:c.4759G>A NP_001341835.1:p.Asp1587Asn
NM_000038.6:c.5608G>A MANE Select NP_000029.2:p.Asp1870Asn
NM_001127510.3:c.5608G>A NP_001120982.1:p.Asp1870Asn
NM_001127511.3:c.5554G>A NP_001120983.2:p.Asp1852Asn
NM_001354895.2:c.5608G>A NP_001341824.1:p.Asp1870Asn
NM_001354896.2:c.5662G>A NP_001341825.1:p.Asp1888Asn
NM_001354897.2:c.5638G>A NP_001341826.1:p.Asp1880Asn
NM_001354898.2:c.5533G>A NP_001341827.1:p.Asp1845Asn
NM_001354899.2:c.5524G>A NP_001341828.1:p.Asp1842Asn
NM_001354900.2:c.5485G>A NP_001341829.1:p.Asp1829Asn
NM_001354901.2:c.5431G>A NP_001341830.1:p.Asp1811Asn
NM_001354902.2:c.5335G>A NP_001341831.1:p.Asp1779Asn
NM_001354903.2:c.5305G>A NP_001341832.1:p.Asp1769Asn
NM_001354904.2:c.5230G>A NP_001341833.1:p.Asp1744Asn
NM_001354905.2:c.5128G>A NP_001341834.1:p.Asp1710Asn
NM_001354906.2:c.4759G>A NP_001341835.1:p.Asp1587Asn