Canonical Allele Identifier: CA015644

Gene: APC

Linked Data

• ClinVar Variation Id: 798
• ClinVar RCV Id: RCV000000834 ; RCV000000835 ; RCV000077996 ; RCV000164370 ; RCV000210154 ; RCV000499742 ; RCV003337225 ; RCV003996069
• dbSNP Id: rs137854568
• COSMIC: COSM13862
• MyVariant Identifiers: chr5:g.112151261C>T (hg19) ; chr5:g.112815564C>T (hg38)
• PubMed: PMID:1316610 ; PMID:1651563 ; PMID:8162022 ; PMID:8187091 ; PMID:9375853 ; PMID:10768871 ; PMID:15857185 ; PMID:16134147 ; PMID:16317745 ; PMID:17135589 ; PMID:20223039 ; PMID:20924072 ; PMID:23561487 ; PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815564C>T , CM000667.2:g.112815564C>T	GRCh38
NC_000005.9:g.112151261C>T , CM000667.1:g.112151261C>T	GRCh37
NC_000005.8:g.112179160C>T	NCBI36
NG_008481.4:g.128044C>T , LRG_130:g.128044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.904C>T	ENSP00000484935.2:p.Arg302Ter
ENST00000504915.3:c.904C>T	ENSP00000473355.2:p.Arg302Ter
ENST00000505084.2:n.960C>T
ENST00000505350.2:c.*910C>T	ENSP00000481752.1:n.*910C>T
ENST00000507379.6:c.850C>T	ENSP00000423224.2:p.Arg284Ter
ENST00000509732.6:c.904C>T	ENSP00000426541.2:p.Arg302Ter
ENST00000512211.7:c.904C>T	ENSP00000423828.3:p.Arg302Ter
ENST00000257430.9:c.904C>T MANE Select	ENSP00000257430.4:p.Arg302Ter
ENST00000257430.8:c.904C>T	ENSP00000257430.4:p.Arg302Ter
ENST00000507379.5:c.850C>T	ENSP00000423224.1:p.Arg284Ter
ENST00000508376.6:c.904C>T	ENSP00000427089.2:p.Arg302Ter
ENST00000508624.5:c.*226C>T	ENSP00000424265.1:n.*226C>T
ENST00000512211.6:c.904C>T	ENSP00000423828.2:p.Arg302Ter
NM_000038.5:c.904C>T	NP_000029.2:p.Arg302Ter
NM_001127510.2:c.904C>T	NP_001120982.1:p.Arg302Ter
NM_001127511.2:c.850C>T	NP_001120983.2:p.Arg284Ter
NM_001354895.1:c.904C>T	NP_001341824.1:p.Arg302Ter
NM_001354896.1:c.904C>T	NP_001341825.1:p.Arg302Ter
NM_001354897.1:c.934C>T	NP_001341826.1:p.Arg312Ter
NM_001354898.1:c.829C>T	NP_001341827.1:p.Arg277Ter
NM_001354899.1:c.820C>T	NP_001341828.1:p.Arg274Ter
NM_001354900.1:c.727C>T	NP_001341829.1:p.Arg243Ter
NM_001354901.1:c.727C>T	NP_001341830.1:p.Arg243Ter
NM_001354902.1:c.934C>T	NP_001341831.1:p.Arg312Ter
NM_001354903.1:c.904C>T	NP_001341832.1:p.Arg302Ter
NM_001354904.1:c.829C>T	NP_001341833.1:p.Arg277Ter
NM_001354905.1:c.727C>T	NP_001341834.1:p.Arg243Ter
NM_001354906.1:c.55C>T	NP_001341835.1:p.Arg19Ter
NM_000038.6:c.904C>T MANE Select	NP_000029.2:p.Arg302Ter
NM_001127510.3:c.904C>T	NP_001120982.1:p.Arg302Ter
NM_001127511.3:c.850C>T	NP_001120983.2:p.Arg284Ter
NM_001354895.2:c.904C>T	NP_001341824.1:p.Arg302Ter
NM_001354896.2:c.904C>T	NP_001341825.1:p.Arg302Ter
NM_001354897.2:c.934C>T	NP_001341826.1:p.Arg312Ter
NM_001354898.2:c.829C>T	NP_001341827.1:p.Arg277Ter
NM_001354899.2:c.820C>T	NP_001341828.1:p.Arg274Ter
NM_001354900.2:c.727C>T	NP_001341829.1:p.Arg243Ter
NM_001354901.2:c.727C>T	NP_001341830.1:p.Arg243Ter
NM_001354902.2:c.934C>T	NP_001341831.1:p.Arg312Ter
NM_001354903.2:c.904C>T	NP_001341832.1:p.Arg302Ter
NM_001354904.2:c.829C>T	NP_001341833.1:p.Arg277Ter
NM_001354905.2:c.727C>T	NP_001341834.1:p.Arg243Ter
NM_001354906.2:c.55C>T	NP_001341835.1:p.Arg19Ter