Canonical Allele Identifier: CA014071

Gene: APC

Linked Data

• ClinVar Variation Id: 181826
• ClinVar RCV Id: RCV000159578 ; RCV000211936 ; RCV003998424 ; RCV003743600
• dbSNP Id: rs730881267
• ExAC: 5:112179088 A / C
• gnomAD v2: 5-112179088-A-C
• gnomAD v3: 5-112843391-A-C
• gnomAD v4: 5-112843391-A-C
• COSMIC: COSM5945637
• MyVariant Identifiers: chr5:g.112179088A>C (hg19) ; chr5:g.112843391A>C (hg38)
• PubMed: PMID:25980754

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843391A>C , CM000667.2:g.112843391A>C	GRCh38
NC_000005.9:g.112179088A>C , CM000667.1:g.112179088A>C	GRCh37
NC_000005.8:g.112206987A>C	NCBI36
NG_008481.4:g.155871A>C , LRG_130:g.155871A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7851A>C	ENSP00000473355.2:p.Lys2617Asn
ENST00000505350.2:c.*7803A>C	ENSP00000481752.1:n.*7803A>C
ENST00000507379.6:c.7743A>C	ENSP00000423224.2:p.Lys2581Asn
ENST00000509732.6:c.7797A>C	ENSP00000426541.2:p.Lys2599Asn
ENST00000512211.7:c.7797A>C	ENSP00000423828.3:p.Lys2599Asn
ENST00000257430.9:c.7797A>C MANE Select	ENSP00000257430.4:p.Lys2599Asn
ENST00000257430.8:c.7797A>C	ENSP00000257430.4:p.Lys2599Asn
ENST00000508376.6:c.7797A>C	ENSP00000427089.2:p.Lys2599Asn
ENST00000520401.1:c.231-13258A>C
NM_000038.5:c.7797A>C	NP_000029.2:p.Lys2599Asn
NM_001127510.2:c.7797A>C	NP_001120982.1:p.Lys2599Asn
NM_001127511.2:c.7743A>C	NP_001120983.2:p.Lys2581Asn
NM_001354895.1:c.7797A>C	NP_001341824.1:p.Lys2599Asn
NM_001354896.1:c.7851A>C	NP_001341825.1:p.Lys2617Asn
NM_001354897.1:c.7827A>C	NP_001341826.1:p.Lys2609Asn
NM_001354898.1:c.7722A>C	NP_001341827.1:p.Lys2574Asn
NM_001354899.1:c.7713A>C	NP_001341828.1:p.Lys2571Asn
NM_001354900.1:c.7674A>C	NP_001341829.1:p.Lys2558Asn
NM_001354901.1:c.7620A>C	NP_001341830.1:p.Lys2540Asn
NM_001354902.1:c.7524A>C	NP_001341831.1:p.Lys2508Asn
NM_001354903.1:c.7494A>C	NP_001341832.1:p.Lys2498Asn
NM_001354904.1:c.7419A>C	NP_001341833.1:p.Lys2473Asn
NM_001354905.1:c.7317A>C	NP_001341834.1:p.Lys2439Asn
NM_001354906.1:c.6948A>C	NP_001341835.1:p.Lys2316Asn
NM_000038.6:c.7797A>C MANE Select	NP_000029.2:p.Lys2599Asn
NM_001127510.3:c.7797A>C	NP_001120982.1:p.Lys2599Asn
NM_001127511.3:c.7743A>C	NP_001120983.2:p.Lys2581Asn
NM_001354895.2:c.7797A>C	NP_001341824.1:p.Lys2599Asn
NM_001354896.2:c.7851A>C	NP_001341825.1:p.Lys2617Asn
NM_001354897.2:c.7827A>C	NP_001341826.1:p.Lys2609Asn
NM_001354898.2:c.7722A>C	NP_001341827.1:p.Lys2574Asn
NM_001354899.2:c.7713A>C	NP_001341828.1:p.Lys2571Asn
NM_001354900.2:c.7674A>C	NP_001341829.1:p.Lys2558Asn
NM_001354901.2:c.7620A>C	NP_001341830.1:p.Lys2540Asn
NM_001354902.2:c.7524A>C	NP_001341831.1:p.Lys2508Asn
NM_001354903.2:c.7494A>C	NP_001341832.1:p.Lys2498Asn
NM_001354904.2:c.7419A>C	NP_001341833.1:p.Lys2473Asn
NM_001354905.2:c.7317A>C	NP_001341834.1:p.Lys2439Asn
NM_001354906.2:c.6948A>C	NP_001341835.1:p.Lys2316Asn