Canonical Allele Identifier: CA007219

Gene: APC

Linked Data

• ClinVar Variation Id: 800
• ClinVar RCV Id: RCV000000837 ; RCV000491636 ; RCV003337226
• dbSNP Id: rs137854570
• COSMIC: COSM287732
• MyVariant Identifiers: chr5:g.112173429C>G (hg19) ; chr5:g.112837732C>G (hg38)
• PubMed: PMID:131661 ; PMID:1316610 ; PMID:1651563 ; PMID:10094547

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837732C>G , CM000667.2:g.112837732C>G	GRCh38
NC_000005.9:g.112173429C>G , CM000667.1:g.112173429C>G	GRCh37
NC_000005.8:g.112201328C>G	NCBI36
NG_008481.4:g.150212C>G , LRG_130:g.150212C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1803C>G	ENSP00000484935.2:n.1803C>G
ENST00000504915.3:c.2192C>G	ENSP00000473355.2:p.Ser731Ter
ENST00000505350.2:c.*2144C>G	ENSP00000481752.1:n.*2144C>G
ENST00000507379.6:c.2084C>G	ENSP00000423224.2:p.Ser695Ter
ENST00000509732.6:c.2138C>G	ENSP00000426541.2:p.Ser713Ter
ENST00000512211.7:c.2138C>G	ENSP00000423828.3:p.Ser713Ter
ENST00000257430.9:c.2138C>G MANE Select	ENSP00000257430.4:p.Ser713Ter
ENST00000257430.8:c.2138C>G	ENSP00000257430.4:p.Ser713Ter
ENST00000502371.2:c.491C>G
ENST00000507379.5:c.2084C>G	ENSP00000423224.1:p.Ser695Ter
ENST00000508376.6:c.2138C>G	ENSP00000427089.2:p.Ser713Ter
ENST00000508624.5:c.*1460C>G	ENSP00000424265.1:n.*1460C>G
ENST00000512211.6:c.2138C>G	ENSP00000423828.2:p.Ser713Ter
ENST00000520401.1:c.230+8760C>G
NM_000038.5:c.2138C>G	NP_000029.2:p.Ser713Ter
NM_001127510.2:c.2138C>G	NP_001120982.1:p.Ser713Ter
NM_001127511.2:c.2084C>G	NP_001120983.2:p.Ser695Ter
NM_001354895.1:c.2138C>G	NP_001341824.1:p.Ser713Ter
NM_001354896.1:c.2192C>G	NP_001341825.1:p.Ser731Ter
NM_001354897.1:c.2168C>G	NP_001341826.1:p.Ser723Ter
NM_001354898.1:c.2063C>G	NP_001341827.1:p.Ser688Ter
NM_001354899.1:c.2054C>G	NP_001341828.1:p.Ser685Ter
NM_001354900.1:c.2015C>G	NP_001341829.1:p.Ser672Ter
NM_001354901.1:c.1961C>G	NP_001341830.1:p.Ser654Ter
NM_001354902.1:c.1865C>G	NP_001341831.1:p.Ser622Ter
NM_001354903.1:c.1835C>G	NP_001341832.1:p.Ser612Ter
NM_001354904.1:c.1760C>G	NP_001341833.1:p.Ser587Ter
NM_001354905.1:c.1658C>G	NP_001341834.1:p.Ser553Ter
NM_001354906.1:c.1289C>G	NP_001341835.1:p.Ser430Ter
NM_000038.6:c.2138C>G MANE Select	NP_000029.2:p.Ser713Ter
NM_001127510.3:c.2138C>G	NP_001120982.1:p.Ser713Ter
NM_001127511.3:c.2084C>G	NP_001120983.2:p.Ser695Ter
NM_001354895.2:c.2138C>G	NP_001341824.1:p.Ser713Ter
NM_001354896.2:c.2192C>G	NP_001341825.1:p.Ser731Ter
NM_001354897.2:c.2168C>G	NP_001341826.1:p.Ser723Ter
NM_001354898.2:c.2063C>G	NP_001341827.1:p.Ser688Ter
NM_001354899.2:c.2054C>G	NP_001341828.1:p.Ser685Ter
NM_001354900.2:c.2015C>G	NP_001341829.1:p.Ser672Ter
NM_001354901.2:c.1961C>G	NP_001341830.1:p.Ser654Ter
NM_001354902.2:c.1865C>G	NP_001341831.1:p.Ser622Ter
NM_001354903.2:c.1835C>G	NP_001341832.1:p.Ser612Ter
NM_001354904.2:c.1760C>G	NP_001341833.1:p.Ser587Ter
NM_001354905.2:c.1658C>G	NP_001341834.1:p.Ser553Ter
NM_001354906.2:c.1289C>G	NP_001341835.1:p.Ser430Ter