Canonical Allele Identifier: CA008761
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 822
ClinVar RCV Id: RCV000000864 RCV000000865 RCV000020088 RCV000034388 RCV000120049 RCV000115087 RCV000210085 RCV000238802 RCV000722046 RCV001195214 RCV001554302 RCV001824556 RCV001535784 RCV003650351
dbSNP Id: rs1801155
ExAC: 5:112175211 T / A
gnomAD v2: 5-112175211-T-A
gnomAD v3: 5-112839514-T-A
gnomAD v4: 5-112839514-T-A
COSMIC: COSM26697
MyVariant Identifiers: chr5:g.112175211T>A (hg19) chr5:g.112175211_112175216delinsAAAAAG (hg19) chr5:g.112839514T>A (hg38) chr5:g.112839514_112839519delinsAAAAAG (hg38)
PubMed: PMID:9288102 PMID:9585599 PMID:9724771 PMID:9731522 PMID:9731533 PMID:9751605 PMID:9831355 PMID:9869602 PMID:9869603 PMID:9869620 PMID:9973276 PMID:10439961 PMID:10938175 PMID:11001924 PMID:11159880 PMID:11354631 PMID:12173321 PMID:12533824 PMID:12621137 PMID:14624392 PMID:15712637 PMID:16140997 PMID:16228836 PMID:16875934 PMID:17854661 PMID:18343606 PMID:19032956 PMID:19047896 PMID:20301519 PMID:22703879 PMID:23576677 PMID:23896379 PMID:24310308 PMID:24416237 PMID:24599579 PMID:24728327 PMID:26300997 PMID:26314409 PMID:26394139 PMID:26421687 PMID:26845104 PMID:27146957 PMID:27153395 PMID:28135136 PMID:28135145
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839514T>A , CM000667.2:g.112839514T>A GRCh38
NC_000005.9:g.112175211T>A , CM000667.1:g.112175211T>A GRCh37
NC_000005.8:g.112203110T>A NCBI36
NG_008481.4:g.151994T>A , LRG_130:g.151994T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.3585T>A ENSP00000484935.2:n.3585T>A
ENST00000504915.3:c.3974T>A ENSP00000473355.2:p.Ile1325Lys
ENST00000505350.2:c.*3926T>A ENSP00000481752.1:n.*3926T>A
ENST00000507379.6:c.3866T>A ENSP00000423224.2:p.Ile1289Lys
ENST00000509732.6:c.3920T>A ENSP00000426541.2:p.Ile1307Lys
ENST00000512211.7:c.3920T>A ENSP00000423828.3:p.Ile1307Lys
ENST00000257430.9:c.3920T>A MANE Select ENSP00000257430.4:p.Ile1307Lys
ENST00000257430.8:c.3920T>A ENSP00000257430.4:p.Ile1307Lys
ENST00000502371.2:c.2273T>A
ENST00000508376.6:c.3920T>A ENSP00000427089.2:p.Ile1307Lys
ENST00000508624.5:c.*3242T>A ENSP00000424265.1:n.*3242T>A
ENST00000520401.1:c.230+10542T>A
NM_000038.5:c.3920T>A NP_000029.2:p.Ile1307Lys
NM_001127510.2:c.3920T>A NP_001120982.1:p.Ile1307Lys
NM_001127511.2:c.3866T>A NP_001120983.2:p.Ile1289Lys
NM_001354895.1:c.3920T>A NP_001341824.1:p.Ile1307Lys
NM_001354896.1:c.3974T>A NP_001341825.1:p.Ile1325Lys
NM_001354897.1:c.3950T>A NP_001341826.1:p.Ile1317Lys
NM_001354898.1:c.3845T>A NP_001341827.1:p.Ile1282Lys
NM_001354899.1:c.3836T>A NP_001341828.1:p.Ile1279Lys
NM_001354900.1:c.3797T>A NP_001341829.1:p.Ile1266Lys
NM_001354901.1:c.3743T>A NP_001341830.1:p.Ile1248Lys
NM_001354902.1:c.3647T>A NP_001341831.1:p.Ile1216Lys
NM_001354903.1:c.3617T>A NP_001341832.1:p.Ile1206Lys
NM_001354904.1:c.3542T>A NP_001341833.1:p.Ile1181Lys
NM_001354905.1:c.3440T>A NP_001341834.1:p.Ile1147Lys
NM_001354906.1:c.3071T>A NP_001341835.1:p.Ile1024Lys
NM_000038.6:c.3920T>A MANE Select NP_000029.2:p.Ile1307Lys
NM_001127510.3:c.3920T>A NP_001120982.1:p.Ile1307Lys
NM_001127511.3:c.3866T>A NP_001120983.2:p.Ile1289Lys
NM_001354895.2:c.3920T>A NP_001341824.1:p.Ile1307Lys
NM_001354896.2:c.3974T>A NP_001341825.1:p.Ile1325Lys
NM_001354897.2:c.3950T>A NP_001341826.1:p.Ile1317Lys
NM_001354898.2:c.3845T>A NP_001341827.1:p.Ile1282Lys
NM_001354899.2:c.3836T>A NP_001341828.1:p.Ile1279Lys
NM_001354900.2:c.3797T>A NP_001341829.1:p.Ile1266Lys
NM_001354901.2:c.3743T>A NP_001341830.1:p.Ile1248Lys
NM_001354902.2:c.3647T>A NP_001341831.1:p.Ile1216Lys
NM_001354903.2:c.3617T>A NP_001341832.1:p.Ile1206Lys
NM_001354904.2:c.3542T>A NP_001341833.1:p.Ile1181Lys
NM_001354905.2:c.3440T>A NP_001341834.1:p.Ile1147Lys
NM_001354906.2:c.3071T>A NP_001341835.1:p.Ile1024Lys
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