Canonical Allele Identifier: CA279822

Gene: APC

Linked Data

• ClinVar Variation Id: 217973
• ClinVar RCV Id: RCV000202286 ; RCV000775141 ; RCV002517329 ; RCV003534482
• dbSNP Id: rs863225348
• COSMIC: COSM3428827
• MyVariant Identifiers: chr5:g.112175106C>G (hg19) ; chr5:g.112839409C>G (hg38)
• PubMed: PMID:15024739 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839409C>G , CM000667.2:g.112839409C>G	GRCh38
NC_000005.9:g.112175106C>G , CM000667.1:g.112175106C>G	GRCh37
NC_000005.8:g.112203005C>G	NCBI36
NG_008481.4:g.151889C>G , LRG_130:g.151889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3480C>G	ENSP00000484935.2:n.3480C>G
ENST00000504915.3:c.3869C>G	ENSP00000473355.2:p.Ser1290Ter
ENST00000505350.2:c.*3821C>G	ENSP00000481752.1:n.*3821C>G
ENST00000507379.6:c.3761C>G	ENSP00000423224.2:p.Ser1254Ter
ENST00000509732.6:c.3815C>G	ENSP00000426541.2:p.Ser1272Ter
ENST00000512211.7:c.3815C>G	ENSP00000423828.3:p.Ser1272Ter
ENST00000257430.9:c.3815C>G MANE Select	ENSP00000257430.4:p.Ser1272Ter
ENST00000257430.8:c.3815C>G	ENSP00000257430.4:p.Ser1272Ter
ENST00000502371.2:c.2168C>G
ENST00000508376.6:c.3815C>G	ENSP00000427089.2:p.Ser1272Ter
ENST00000508624.5:c.*3137C>G	ENSP00000424265.1:n.*3137C>G
ENST00000512211.6:c.3815C>G	ENSP00000423828.2:p.Ser1272Ter
ENST00000520401.1:c.230+10437C>G
NM_000038.5:c.3815C>G	NP_000029.2:p.Ser1272Ter
NM_001127510.2:c.3815C>G	NP_001120982.1:p.Ser1272Ter
NM_001127511.2:c.3761C>G	NP_001120983.2:p.Ser1254Ter
NM_001354895.1:c.3815C>G	NP_001341824.1:p.Ser1272Ter
NM_001354896.1:c.3869C>G	NP_001341825.1:p.Ser1290Ter
NM_001354897.1:c.3845C>G	NP_001341826.1:p.Ser1282Ter
NM_001354898.1:c.3740C>G	NP_001341827.1:p.Ser1247Ter
NM_001354899.1:c.3731C>G	NP_001341828.1:p.Ser1244Ter
NM_001354900.1:c.3692C>G	NP_001341829.1:p.Ser1231Ter
NM_001354901.1:c.3638C>G	NP_001341830.1:p.Ser1213Ter
NM_001354902.1:c.3542C>G	NP_001341831.1:p.Ser1181Ter
NM_001354903.1:c.3512C>G	NP_001341832.1:p.Ser1171Ter
NM_001354904.1:c.3437C>G	NP_001341833.1:p.Ser1146Ter
NM_001354905.1:c.3335C>G	NP_001341834.1:p.Ser1112Ter
NM_001354906.1:c.2966C>G	NP_001341835.1:p.Ser989Ter
NM_000038.6:c.3815C>G MANE Select	NP_000029.2:p.Ser1272Ter
NM_001127510.3:c.3815C>G	NP_001120982.1:p.Ser1272Ter
NM_001127511.3:c.3761C>G	NP_001120983.2:p.Ser1254Ter
NM_001354895.2:c.3815C>G	NP_001341824.1:p.Ser1272Ter
NM_001354896.2:c.3869C>G	NP_001341825.1:p.Ser1290Ter
NM_001354897.2:c.3845C>G	NP_001341826.1:p.Ser1282Ter
NM_001354898.2:c.3740C>G	NP_001341827.1:p.Ser1247Ter
NM_001354899.2:c.3731C>G	NP_001341828.1:p.Ser1244Ter
NM_001354900.2:c.3692C>G	NP_001341829.1:p.Ser1231Ter
NM_001354901.2:c.3638C>G	NP_001341830.1:p.Ser1213Ter
NM_001354902.2:c.3542C>G	NP_001341831.1:p.Ser1181Ter
NM_001354903.2:c.3512C>G	NP_001341832.1:p.Ser1171Ter
NM_001354904.2:c.3437C>G	NP_001341833.1:p.Ser1146Ter
NM_001354905.2:c.3335C>G	NP_001341834.1:p.Ser1112Ter
NM_001354906.2:c.2966C>G	NP_001341835.1:p.Ser989Ter