Canonical Allele Identifier: CA279741

Gene: APC

Linked Data

• ClinVar Variation Id: 217921
• ClinVar RCV Id: RCV000202128 ; RCV002381694 ; RCV002517319 ; RCV003534475
• dbSNP Id: rs863225309
• MyVariant Identifiers: chr5:g.112155026C>T (hg19) ; chr5:g.112819329C>T (hg38)
• PubMed: PMID:11247896 ; PMID:19029688 ; PMID:20223039

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819329C>T , CM000667.2:g.112819329C>T	GRCh38
NC_000005.9:g.112155026C>T , CM000667.1:g.112155026C>T	GRCh37
NC_000005.8:g.112182925C>T	NCBI36
NG_008481.4:g.131809C>T , LRG_130:g.131809C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1297C>T	ENSP00000484935.2:p.Gln433Ter
ENST00000504915.3:c.1297C>T	ENSP00000473355.2:p.Gln433Ter
ENST00000505084.2:n.1353C>T
ENST00000505350.2:c.*1303C>T	ENSP00000481752.1:n.*1303C>T
ENST00000507379.6:c.1243C>T	ENSP00000423224.2:p.Gln415Ter
ENST00000509732.6:c.1297C>T	ENSP00000426541.2:p.Gln433Ter
ENST00000512211.7:c.1297C>T	ENSP00000423828.3:p.Gln433Ter
ENST00000257430.9:c.1297C>T MANE Select	ENSP00000257430.4:p.Gln433Ter
ENST00000257430.8:c.1297C>T	ENSP00000257430.4:p.Gln433Ter
ENST00000507379.5:c.1243C>T	ENSP00000423224.1:p.Gln415Ter
ENST00000508376.6:c.1297C>T	ENSP00000427089.2:p.Gln433Ter
ENST00000508624.5:c.*619C>T	ENSP00000424265.1:n.*619C>T
ENST00000512211.6:c.1297C>T	ENSP00000423828.2:p.Gln433Ter
NM_000038.5:c.1297C>T	NP_000029.2:p.Gln433Ter
NM_001127510.2:c.1297C>T	NP_001120982.1:p.Gln433Ter
NM_001127511.2:c.1243C>T	NP_001120983.2:p.Gln415Ter
NM_001354895.1:c.1297C>T	NP_001341824.1:p.Gln433Ter
NM_001354896.1:c.1297C>T	NP_001341825.1:p.Gln433Ter
NM_001354897.1:c.1327C>T	NP_001341826.1:p.Gln443Ter
NM_001354898.1:c.1222C>T	NP_001341827.1:p.Gln408Ter
NM_001354899.1:c.1213C>T	NP_001341828.1:p.Gln405Ter
NM_001354900.1:c.1120C>T	NP_001341829.1:p.Gln374Ter
NM_001354901.1:c.1120C>T	NP_001341830.1:p.Gln374Ter
NM_001354902.1:c.1024C>T	NP_001341831.1:p.Gln342Ter
NM_001354903.1:c.994C>T	NP_001341832.1:p.Gln332Ter
NM_001354904.1:c.919C>T	NP_001341833.1:p.Gln307Ter
NM_001354905.1:c.817C>T	NP_001341834.1:p.Gln273Ter
NM_001354906.1:c.448C>T	NP_001341835.1:p.Gln150Ter
NM_000038.6:c.1297C>T MANE Select	NP_000029.2:p.Gln433Ter
NM_001127510.3:c.1297C>T	NP_001120982.1:p.Gln433Ter
NM_001127511.3:c.1243C>T	NP_001120983.2:p.Gln415Ter
NM_001354895.2:c.1297C>T	NP_001341824.1:p.Gln433Ter
NM_001354896.2:c.1297C>T	NP_001341825.1:p.Gln433Ter
NM_001354897.2:c.1327C>T	NP_001341826.1:p.Gln443Ter
NM_001354898.2:c.1222C>T	NP_001341827.1:p.Gln408Ter
NM_001354899.2:c.1213C>T	NP_001341828.1:p.Gln405Ter
NM_001354900.2:c.1120C>T	NP_001341829.1:p.Gln374Ter
NM_001354901.2:c.1120C>T	NP_001341830.1:p.Gln374Ter
NM_001354902.2:c.1024C>T	NP_001341831.1:p.Gln342Ter
NM_001354903.2:c.994C>T	NP_001341832.1:p.Gln332Ter
NM_001354904.2:c.919C>T	NP_001341833.1:p.Gln307Ter
NM_001354905.2:c.817C>T	NP_001341834.1:p.Gln273Ter
NM_001354906.2:c.448C>T	NP_001341835.1:p.Gln150Ter