Canonical Allele Identifier: CA279684

Gene: APC

Linked Data

• ClinVar Variation Id: 217985
• ClinVar RCV Id: RCV000202021 ; RCV002327055 ; RCV003335215
• dbSNP Id: rs863225356
• COSMIC: COSM19180
• MyVariant Identifiers: chr5:g.112175925C>G (hg19) ; chr5:g.112840228C>G (hg38)
• PubMed: PMID:12010888 ; PMID:20223039

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840228C>G , CM000667.2:g.112840228C>G	GRCh38
NC_000005.9:g.112175925C>G , CM000667.1:g.112175925C>G	GRCh37
NC_000005.8:g.112203824C>G	NCBI36
NG_008481.4:g.152708C>G , LRG_130:g.152708C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4688C>G	ENSP00000473355.2:p.Ser1563Ter
ENST00000505350.2:c.*4640C>G	ENSP00000481752.1:n.*4640C>G
ENST00000507379.6:c.4580C>G	ENSP00000423224.2:p.Ser1527Ter
ENST00000509732.6:c.4634C>G	ENSP00000426541.2:p.Ser1545Ter
ENST00000512211.7:c.4634C>G	ENSP00000423828.3:p.Ser1545Ter
ENST00000257430.9:c.4634C>G MANE Select	ENSP00000257430.4:p.Ser1545Ter
ENST00000257430.8:c.4634C>G	ENSP00000257430.4:p.Ser1545Ter
ENST00000508376.6:c.4634C>G	ENSP00000427089.2:p.Ser1545Ter
ENST00000508624.5:c.*3956C>G	ENSP00000424265.1:n.*3956C>G
ENST00000520401.1:c.230+11256C>G
NM_000038.5:c.4634C>G	NP_000029.2:p.Ser1545Ter
NM_001127510.2:c.4634C>G	NP_001120982.1:p.Ser1545Ter
NM_001127511.2:c.4580C>G	NP_001120983.2:p.Ser1527Ter
NM_001354895.1:c.4634C>G	NP_001341824.1:p.Ser1545Ter
NM_001354896.1:c.4688C>G	NP_001341825.1:p.Ser1563Ter
NM_001354897.1:c.4664C>G	NP_001341826.1:p.Ser1555Ter
NM_001354898.1:c.4559C>G	NP_001341827.1:p.Ser1520Ter
NM_001354899.1:c.4550C>G	NP_001341828.1:p.Ser1517Ter
NM_001354900.1:c.4511C>G	NP_001341829.1:p.Ser1504Ter
NM_001354901.1:c.4457C>G	NP_001341830.1:p.Ser1486Ter
NM_001354902.1:c.4361C>G	NP_001341831.1:p.Ser1454Ter
NM_001354903.1:c.4331C>G	NP_001341832.1:p.Ser1444Ter
NM_001354904.1:c.4256C>G	NP_001341833.1:p.Ser1419Ter
NM_001354905.1:c.4154C>G	NP_001341834.1:p.Ser1385Ter
NM_001354906.1:c.3785C>G	NP_001341835.1:p.Ser1262Ter
NM_000038.6:c.4634C>G MANE Select	NP_000029.2:p.Ser1545Ter
NM_001127510.3:c.4634C>G	NP_001120982.1:p.Ser1545Ter
NM_001127511.3:c.4580C>G	NP_001120983.2:p.Ser1527Ter
NM_001354895.2:c.4634C>G	NP_001341824.1:p.Ser1545Ter
NM_001354896.2:c.4688C>G	NP_001341825.1:p.Ser1563Ter
NM_001354897.2:c.4664C>G	NP_001341826.1:p.Ser1555Ter
NM_001354898.2:c.4559C>G	NP_001341827.1:p.Ser1520Ter
NM_001354899.2:c.4550C>G	NP_001341828.1:p.Ser1517Ter
NM_001354900.2:c.4511C>G	NP_001341829.1:p.Ser1504Ter
NM_001354901.2:c.4457C>G	NP_001341830.1:p.Ser1486Ter
NM_001354902.2:c.4361C>G	NP_001341831.1:p.Ser1454Ter
NM_001354903.2:c.4331C>G	NP_001341832.1:p.Ser1444Ter
NM_001354904.2:c.4256C>G	NP_001341833.1:p.Ser1419Ter
NM_001354905.2:c.4154C>G	NP_001341834.1:p.Ser1385Ter
NM_001354906.2:c.3785C>G	NP_001341835.1:p.Ser1262Ter