Canonical Allele Identifier: CA039538
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 245712
dbSNP Id: rs763578917

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840263A>G , CM000667.2:g.112840263A>G GRCh38
NC_000005.9:g.112175960A>G , CM000667.1:g.112175960A>G GRCh37
NC_000005.8:g.112203859A>G NCBI36
NG_008481.4:g.152743A>G , LRG_130:g.152743A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.4669A>G MANE Select ENSP00000257430.4:p.Ile1557Val
ENST00000257430.8:c.4669A>G ENSP00000257430.4:p.Ile1557Val
ENST00000508376.6:c.4669A>G ENSP00000427089.2:p.Ile1557Val
ENST00000508624.5:c.*3991A>G ENSP00000424265.1:p.=
ENST00000520401.1:n.230+11291A>G
NM_000038.5:c.4669A>G NP_000029.2:p.Ile1557Val
NM_001127510.2:c.4669A>G NP_001120982.1:p.Ile1557Val
NM_001127511.2:c.4615A>G NP_001120983.2:p.Ile1539Val
NM_001354895.1:c.4669A>G NP_001341824.1:p.Ile1557Val
NM_001354896.1:c.4723A>G NP_001341825.1:p.Ile1575Val
NM_001354897.1:c.4699A>G NP_001341826.1:p.Ile1567Val
NM_001354898.1:c.4594A>G NP_001341827.1:p.Ile1532Val
NM_001354899.1:c.4585A>G NP_001341828.1:p.Ile1529Val
NM_001354900.1:c.4546A>G NP_001341829.1:p.Ile1516Val
NM_001354901.1:c.4492A>G NP_001341830.1:p.Ile1498Val
NM_001354902.1:c.4396A>G NP_001341831.1:p.Ile1466Val
NM_001354903.1:c.4366A>G NP_001341832.1:p.Ile1456Val
NM_001354904.1:c.4291A>G NP_001341833.1:p.Ile1431Val
NM_001354905.1:c.4189A>G NP_001341834.1:p.Ile1397Val
NM_001354906.1:c.3820A>G NP_001341835.1:p.Ile1274Val
NM_000038.6:c.4669A>G MANE Select NP_000029.2:p.Ile1557Val
NM_001127510.3:c.4669A>G NP_001120982.1:p.Ile1557Val
NM_001127511.3:c.4615A>G NP_001120983.2:p.Ile1539Val
NM_001354895.2:c.4669A>G NP_001341824.1:p.Ile1557Val
NM_001354896.2:c.4723A>G NP_001341825.1:p.Ile1575Val
NM_001354897.2:c.4699A>G NP_001341826.1:p.Ile1567Val
NM_001354898.2:c.4594A>G NP_001341827.1:p.Ile1532Val
NM_001354899.2:c.4585A>G NP_001341828.1:p.Ile1529Val
NM_001354900.2:c.4546A>G NP_001341829.1:p.Ile1516Val
NM_001354901.2:c.4492A>G NP_001341830.1:p.Ile1498Val
NM_001354902.2:c.4396A>G NP_001341831.1:p.Ile1466Val
NM_001354903.2:c.4366A>G NP_001341832.1:p.Ile1456Val
NM_001354904.2:c.4291A>G NP_001341833.1:p.Ile1431Val
NM_001354905.2:c.4189A>G NP_001341834.1:p.Ile1397Val
NM_001354906.2:c.3820A>G NP_001341835.1:p.Ile1274Val