Canonical Allele Identifier: CA040722
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 469992
ClinVar RCV Id: RCV003742728
dbSNP Id: rs573531013

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840730A>G , CM000667.2:g.112840730A>G GRCh38
NC_000005.9:g.112176427A>G , CM000667.1:g.112176427A>G GRCh37
NC_000005.8:g.112204326A>G NCBI36
NG_008481.4:g.153210A>G , LRG_130:g.153210A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000504915.3:c.5190A>G ENSP00000473355.2:p.Glu1730=
ENST00000505350.2:c.*5142A>G ENSP00000481752.1:n.*5142A>G
ENST00000507379.6:c.5082A>G ENSP00000423224.2:p.Glu1694=
ENST00000509732.6:c.5136A>G ENSP00000426541.2:p.Glu1712=
ENST00000512211.7:c.5136A>G ENSP00000423828.3:p.Glu1712=
ENST00000257430.9:c.5136A>G MANE Select ENSP00000257430.4:p.Glu1712=
ENST00000257430.8:c.5136A>G ENSP00000257430.4:p.Glu1712=
ENST00000508376.6:c.5136A>G ENSP00000427089.2:p.Glu1712=
ENST00000508624.5:c.*4458A>G ENSP00000424265.1:n.*4458A>G
ENST00000520401.1:c.230+11758A>G
NM_000038.5:c.5136A>G NP_000029.2:p.Glu1712=
NM_001127510.2:c.5136A>G NP_001120982.1:p.Glu1712=
NM_001127511.2:c.5082A>G NP_001120983.2:p.Glu1694=
NM_001354895.1:c.5136A>G NP_001341824.1:p.Glu1712=
NM_001354896.1:c.5190A>G NP_001341825.1:p.Glu1730=
NM_001354897.1:c.5166A>G NP_001341826.1:p.Glu1722=
NM_001354898.1:c.5061A>G NP_001341827.1:p.Glu1687=
NM_001354899.1:c.5052A>G NP_001341828.1:p.Glu1684=
NM_001354900.1:c.5013A>G NP_001341829.1:p.Glu1671=
NM_001354901.1:c.4959A>G NP_001341830.1:p.Glu1653=
NM_001354902.1:c.4863A>G NP_001341831.1:p.Glu1621=
NM_001354903.1:c.4833A>G NP_001341832.1:p.Glu1611=
NM_001354904.1:c.4758A>G NP_001341833.1:p.Glu1586=
NM_001354905.1:c.4656A>G NP_001341834.1:p.Glu1552=
NM_001354906.1:c.4287A>G NP_001341835.1:p.Glu1429=
NM_000038.6:c.5136A>G MANE Select NP_000029.2:p.Glu1712=
NM_001127510.3:c.5136A>G NP_001120982.1:p.Glu1712=
NM_001127511.3:c.5082A>G NP_001120983.2:p.Glu1694=
NM_001354895.2:c.5136A>G NP_001341824.1:p.Glu1712=
NM_001354896.2:c.5190A>G NP_001341825.1:p.Glu1730=
NM_001354897.2:c.5166A>G NP_001341826.1:p.Glu1722=
NM_001354898.2:c.5061A>G NP_001341827.1:p.Glu1687=
NM_001354899.2:c.5052A>G NP_001341828.1:p.Glu1684=
NM_001354900.2:c.5013A>G NP_001341829.1:p.Glu1671=
NM_001354901.2:c.4959A>G NP_001341830.1:p.Glu1653=
NM_001354902.2:c.4863A>G NP_001341831.1:p.Glu1621=
NM_001354903.2:c.4833A>G NP_001341832.1:p.Glu1611=
NM_001354904.2:c.4758A>G NP_001341833.1:p.Glu1586=
NM_001354905.2:c.4656A>G NP_001341834.1:p.Glu1552=
NM_001354906.2:c.4287A>G NP_001341835.1:p.Glu1429=