Canonical Allele Identifier: CA005882

Gene: APC

Linked Data

• ClinVar Variation Id: 156482
• ClinVar RCV Id: RCV000144573 ; RCV000500538 ; RCV001012984 ; RCV002281962 ; RCV003650400 ; RCV003321518
• dbSNP Id: rs587783035
• COSMIC: COSM374511
• MyVariant Identifiers: chr5:g.112170646A>G (hg19) ; chr5:g.112834949A>G (hg38)
• PubMed: PMID:8990002 ; PMID:9298819 ; PMID:11247896 ; PMID:15459959 ; PMID:20564245 ; PMID:23159591

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834949A>G , CM000667.2:g.112834949A>G	GRCh38
NC_000005.9:g.112170646A>G , CM000667.1:g.112170646A>G	GRCh37
NC_000005.8:g.112198545A>G	NCBI36
NG_008481.4:g.147429A>G , LRG_130:g.147429A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1409-2A>G	ENSP00000484935.2:n.1409-2A>G
ENST00000504915.3:c.1798-2A>G	ENSP00000473355.2:n.1798-2A>G
ENST00000505350.2:c.*1750-2A>G	ENSP00000481752.1:n.*1750-2A>G
ENST00000507379.6:c.1690-2A>G	ENSP00000423224.2:n.1690-2A>G
ENST00000509732.6:c.1744-2A>G	ENSP00000426541.2:n.1744-2A>G
ENST00000512211.7:c.1744-2A>G	ENSP00000423828.3:n.1744-2A>G
ENST00000257430.9:c.1744-2A>G MANE Select	ENSP00000257430.4:n.1744-2A>G
ENST00000257430.8:c.1744-2A>G	ENSP00000257430.4:n.1744-2A>G
ENST00000502371.2:c.97-2A>G
ENST00000504915.2:c.433-2A>G	ENSP00000473355.1:n.433-2A>G
ENST00000507379.5:c.1690-2A>G	ENSP00000423224.1:n.1690-2A>G
ENST00000508376.6:c.1744-2A>G	ENSP00000427089.2:n.1744-2A>G
ENST00000508624.5:c.*1066-2A>G	ENSP00000424265.1:n.*1066-2A>G
ENST00000512211.6:c.1744-2A>G	ENSP00000423828.2:n.1744-2A>G
ENST00000520401.1:c.230+5977A>G
NM_000038.5:c.1744-2A>G	NP_000029.2:n.1744-2A>G
NM_001127510.2:c.1744-2A>G	NP_001120982.1:n.1744-2A>G
NM_001127511.2:c.1690-2A>G	NP_001120983.2:n.1690-2A>G
NM_001354895.1:c.1744-2A>G	NP_001341824.1:n.1744-2A>G
NM_001354896.1:c.1798-2A>G	NP_001341825.1:n.1798-2A>G
NM_001354897.1:c.1774-2A>G	NP_001341826.1:n.1774-2A>G
NM_001354898.1:c.1669-2A>G	NP_001341827.1:n.1669-2A>G
NM_001354899.1:c.1660-2A>G	NP_001341828.1:n.1660-2A>G
NM_001354900.1:c.1621-2A>G	NP_001341829.1:n.1621-2A>G
NM_001354901.1:c.1567-2A>G	NP_001341830.1:n.1567-2A>G
NM_001354902.1:c.1471-2A>G	NP_001341831.1:n.1471-2A>G
NM_001354903.1:c.1441-2A>G	NP_001341832.1:n.1441-2A>G
NM_001354904.1:c.1366-2A>G	NP_001341833.1:n.1366-2A>G
NM_001354905.1:c.1264-2A>G	NP_001341834.1:n.1264-2A>G
NM_001354906.1:c.895-2A>G	NP_001341835.1:n.895-2A>G
NM_000038.6:c.1744-2A>G MANE Select	NP_000029.2:n.1744-2A>G
NM_001127510.3:c.1744-2A>G	NP_001120982.1:n.1744-2A>G
NM_001127511.3:c.1690-2A>G	NP_001120983.2:n.1690-2A>G
NM_001354895.2:c.1744-2A>G	NP_001341824.1:n.1744-2A>G
NM_001354896.2:c.1798-2A>G	NP_001341825.1:n.1798-2A>G
NM_001354897.2:c.1774-2A>G	NP_001341826.1:n.1774-2A>G
NM_001354898.2:c.1669-2A>G	NP_001341827.1:n.1669-2A>G
NM_001354899.2:c.1660-2A>G	NP_001341828.1:n.1660-2A>G
NM_001354900.2:c.1621-2A>G	NP_001341829.1:n.1621-2A>G
NM_001354901.2:c.1567-2A>G	NP_001341830.1:n.1567-2A>G
NM_001354902.2:c.1471-2A>G	NP_001341831.1:n.1471-2A>G
NM_001354903.2:c.1441-2A>G	NP_001341832.1:n.1441-2A>G
NM_001354904.2:c.1366-2A>G	NP_001341833.1:n.1366-2A>G
NM_001354905.2:c.1264-2A>G	NP_001341834.1:n.1264-2A>G
NM_001354906.2:c.895-2A>G	NP_001341835.1:n.895-2A>G