Canonical Allele Identifier: CA360617504

Gene: APC

Linked Data

• ClinVar Variation Id: 495370
• ClinVar RCV Id: RCV000588727 ; RCV002289884 ; RCV002367986 ; RCV002530879 ; RCV003538393
• dbSNP Id: rs777848503
• COSMIC: COSM5041137
• MyVariant Identifiers: chr5:g.112128141A>G (hg19) ; chr5:g.112792444A>G (hg38)
• PubMed: PMID:20685668 ; PMID:25159915 ; PMID:25525159

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112792444A>G , CM000667.2:g.112792444A>G	GRCh38
NC_000005.9:g.112128141A>G , CM000667.1:g.112128141A>G	GRCh37
NC_000005.8:g.112156040A>G	NCBI36
NG_008481.4:g.104924A>G , LRG_130:g.104924A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.646-2A>G	ENSP00000484935.2:n.646-2A>G
ENST00000504915.3:c.646-2A>G	ENSP00000473355.2:n.646-2A>G
ENST00000505084.2:n.702-2A>G
ENST00000505350.2:c.*652-2A>G	ENSP00000481752.1:n.*652-2A>G
ENST00000507379.6:c.676-8835A>G	ENSP00000423224.2:n.676-8835A>G
ENST00000509732.6:c.646-2A>G	ENSP00000426541.2:n.646-2A>G
ENST00000512211.7:c.646-2A>G	ENSP00000423828.3:n.646-2A>G
ENST00000257430.9:c.646-2A>G MANE Select	ENSP00000257430.4:n.646-2A>G
ENST00000257430.8:c.646-2A>G	ENSP00000257430.4:n.646-2A>G
ENST00000507379.5:c.676-8835A>G	ENSP00000423224.1:n.676-8835A>G
ENST00000508376.6:c.646-2A>G	ENSP00000427089.2:n.646-2A>G
ENST00000508624.5:c.646-2A>G	ENSP00000424265.1:n.646-2A>G
ENST00000512211.6:c.646-2A>G	ENSP00000423828.2:n.646-2A>G
NM_000038.5:c.646-2A>G	NP_000029.2:n.646-2A>G
NM_001127510.2:c.646-2A>G	NP_001120982.1:n.646-2A>G
NM_001127511.2:c.676-8835A>G	NP_001120983.2:n.676-8835A>G
NM_001354895.1:c.646-2A>G	NP_001341824.1:n.646-2A>G
NM_001354896.1:c.646-2A>G	NP_001341825.1:n.646-2A>G
NM_001354897.1:c.676-2A>G	NP_001341826.1:n.676-2A>G
NM_001354898.1:c.571-2A>G	NP_001341827.1:n.571-2A>G
NM_001354899.1:c.646-8835A>G	NP_001341828.1:n.646-8835A>G
NM_001354900.1:c.469-2A>G	NP_001341829.1:n.469-2A>G
NM_001354901.1:c.469-2A>G	NP_001341830.1:n.469-2A>G
NM_001354902.1:c.676-2A>G	NP_001341831.1:n.676-2A>G
NM_001354903.1:c.646-2A>G	NP_001341832.1:n.646-2A>G
NM_001354904.1:c.571-2A>G	NP_001341833.1:n.571-2A>G
NM_001354905.1:c.469-2A>G	NP_001341834.1:n.469-2A>G
NM_001354906.1:c.-390-2A>G	NP_001341835.1:n.-390-2A>G
NM_000038.6:c.646-2A>G MANE Select	NP_000029.2:n.646-2A>G
NM_001127510.3:c.646-2A>G	NP_001120982.1:n.646-2A>G
NM_001127511.3:c.676-8835A>G	NP_001120983.2:n.676-8835A>G
NM_001354895.2:c.646-2A>G	NP_001341824.1:n.646-2A>G
NM_001354896.2:c.646-2A>G	NP_001341825.1:n.646-2A>G
NM_001354897.2:c.676-2A>G	NP_001341826.1:n.676-2A>G
NM_001354898.2:c.571-2A>G	NP_001341827.1:n.571-2A>G
NM_001354899.2:c.646-8835A>G	NP_001341828.1:n.646-8835A>G
NM_001354900.2:c.469-2A>G	NP_001341829.1:n.469-2A>G
NM_001354901.2:c.469-2A>G	NP_001341830.1:n.469-2A>G
NM_001354902.2:c.676-2A>G	NP_001341831.1:n.676-2A>G
NM_001354903.2:c.646-2A>G	NP_001341832.1:n.646-2A>G
NM_001354904.2:c.571-2A>G	NP_001341833.1:n.571-2A>G
NM_001354905.2:c.469-2A>G	NP_001341834.1:n.469-2A>G
NM_001354906.2:c.-390-2A>G	NP_001341835.1:n.-390-2A>G