Canonical Allele Identifier: CA008153

Gene: APC

Linked Data

• ClinVar Variation Id: 803
• ClinVar RCV Id: RCV000000840 ; RCV001019125 ; RCV003335004
• dbSNP Id: rs137854571
• COSMIC: COSM19328
• MyVariant Identifiers: chr5:g.112174490C>T (hg19) ; chr5:g.112838793C>T (hg38)
• PubMed: PMID:1317264 ; PMID:10094547 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838793C>T , CM000667.2:g.112838793C>T	GRCh38
NC_000005.9:g.112174490C>T , CM000667.1:g.112174490C>T	GRCh37
NC_000005.8:g.112202389C>T	NCBI36
NG_008481.4:g.151273C>T , LRG_130:g.151273C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2864C>T	ENSP00000484935.2:n.2864C>T
ENST00000504915.3:c.3253C>T	ENSP00000473355.2:p.Gln1085Ter
ENST00000505350.2:c.*3205C>T	ENSP00000481752.1:n.*3205C>T
ENST00000507379.6:c.3145C>T	ENSP00000423224.2:p.Gln1049Ter
ENST00000509732.6:c.3199C>T	ENSP00000426541.2:p.Gln1067Ter
ENST00000512211.7:c.3199C>T	ENSP00000423828.3:p.Gln1067Ter
ENST00000257430.9:c.3199C>T MANE Select	ENSP00000257430.4:p.Gln1067Ter
ENST00000257430.8:c.3199C>T	ENSP00000257430.4:p.Gln1067Ter
ENST00000502371.2:c.1552C>T
ENST00000507379.5:c.3145C>T	ENSP00000423224.1:p.Gln1049Ter
ENST00000508376.6:c.3199C>T	ENSP00000427089.2:p.Gln1067Ter
ENST00000508624.5:c.*2521C>T	ENSP00000424265.1:n.*2521C>T
ENST00000512211.6:c.3199C>T	ENSP00000423828.2:p.Gln1067Ter
ENST00000520401.1:c.230+9821C>T
NM_000038.5:c.3199C>T	NP_000029.2:p.Gln1067Ter
NM_001127510.2:c.3199C>T	NP_001120982.1:p.Gln1067Ter
NM_001127511.2:c.3145C>T	NP_001120983.2:p.Gln1049Ter
NM_001354895.1:c.3199C>T	NP_001341824.1:p.Gln1067Ter
NM_001354896.1:c.3253C>T	NP_001341825.1:p.Gln1085Ter
NM_001354897.1:c.3229C>T	NP_001341826.1:p.Gln1077Ter
NM_001354898.1:c.3124C>T	NP_001341827.1:p.Gln1042Ter
NM_001354899.1:c.3115C>T	NP_001341828.1:p.Gln1039Ter
NM_001354900.1:c.3076C>T	NP_001341829.1:p.Gln1026Ter
NM_001354901.1:c.3022C>T	NP_001341830.1:p.Gln1008Ter
NM_001354902.1:c.2926C>T	NP_001341831.1:p.Gln976Ter
NM_001354903.1:c.2896C>T	NP_001341832.1:p.Gln966Ter
NM_001354904.1:c.2821C>T	NP_001341833.1:p.Gln941Ter
NM_001354905.1:c.2719C>T	NP_001341834.1:p.Gln907Ter
NM_001354906.1:c.2350C>T	NP_001341835.1:p.Gln784Ter
NM_000038.6:c.3199C>T MANE Select	NP_000029.2:p.Gln1067Ter
NM_001127510.3:c.3199C>T	NP_001120982.1:p.Gln1067Ter
NM_001127511.3:c.3145C>T	NP_001120983.2:p.Gln1049Ter
NM_001354895.2:c.3199C>T	NP_001341824.1:p.Gln1067Ter
NM_001354896.2:c.3253C>T	NP_001341825.1:p.Gln1085Ter
NM_001354897.2:c.3229C>T	NP_001341826.1:p.Gln1077Ter
NM_001354898.2:c.3124C>T	NP_001341827.1:p.Gln1042Ter
NM_001354899.2:c.3115C>T	NP_001341828.1:p.Gln1039Ter
NM_001354900.2:c.3076C>T	NP_001341829.1:p.Gln1026Ter
NM_001354901.2:c.3022C>T	NP_001341830.1:p.Gln1008Ter
NM_001354902.2:c.2926C>T	NP_001341831.1:p.Gln976Ter
NM_001354903.2:c.2896C>T	NP_001341832.1:p.Gln966Ter
NM_001354904.2:c.2821C>T	NP_001341833.1:p.Gln941Ter
NM_001354905.2:c.2719C>T	NP_001341834.1:p.Gln907Ter
NM_001354906.2:c.2350C>T	NP_001341835.1:p.Gln784Ter