Canonical Allele Identifier: CA360619186

Gene: APC

Linked Data

• ClinVar Variation Id: 470155
• ClinVar RCV Id: RCV000568263 ; RCV003999447 ; RCV003744543 ; RCV001764583
• dbSNP Id: rs1554079938
• MyVariant Identifiers: chr5:g.112154661A>G (hg19) ; chr5:g.112818964A>G (hg38)
• PubMed: PMID:1651174 ; PMID:1678319 ; PMID:7490101 ; PMID:19029688

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112818964A>G , CM000667.2:g.112818964A>G	GRCh38
NC_000005.9:g.112154661A>G , CM000667.1:g.112154661A>G	GRCh37
NC_000005.8:g.112182560A>G	NCBI36
NG_008481.4:g.131444A>G , LRG_130:g.131444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.934-2A>G	ENSP00000484935.2:n.934-2A>G
ENST00000504915.3:c.934-2A>G	ENSP00000473355.2:n.934-2A>G
ENST00000505084.2:n.990-2A>G
ENST00000505350.2:c.*940-2A>G	ENSP00000481752.1:n.*940-2A>G
ENST00000507379.6:c.880-2A>G	ENSP00000423224.2:n.880-2A>G
ENST00000509732.6:c.934-2A>G	ENSP00000426541.2:n.934-2A>G
ENST00000512211.7:c.934-2A>G	ENSP00000423828.3:n.934-2A>G
ENST00000257430.9:c.934-2A>G MANE Select	ENSP00000257430.4:n.934-2A>G
ENST00000257430.8:c.934-2A>G	ENSP00000257430.4:n.934-2A>G
ENST00000507379.5:c.880-2A>G	ENSP00000423224.1:n.880-2A>G
ENST00000508376.6:c.934-2A>G	ENSP00000427089.2:n.934-2A>G
ENST00000508624.5:c.*256-2A>G	ENSP00000424265.1:n.*256-2A>G
ENST00000512211.6:c.934-2A>G	ENSP00000423828.2:n.934-2A>G
NM_000038.5:c.934-2A>G	NP_000029.2:n.934-2A>G
NM_001127510.2:c.934-2A>G	NP_001120982.1:n.934-2A>G
NM_001127511.2:c.880-2A>G	NP_001120983.2:n.880-2A>G
NM_001354895.1:c.934-2A>G	NP_001341824.1:n.934-2A>G
NM_001354896.1:c.934-2A>G	NP_001341825.1:n.934-2A>G
NM_001354897.1:c.964-2A>G	NP_001341826.1:n.964-2A>G
NM_001354898.1:c.859-2A>G	NP_001341827.1:n.859-2A>G
NM_001354899.1:c.850-2A>G	NP_001341828.1:n.850-2A>G
NM_001354900.1:c.757-2A>G	NP_001341829.1:n.757-2A>G
NM_001354901.1:c.757-2A>G	NP_001341830.1:n.757-2A>G
NM_001354902.1:c.964-305A>G	NP_001341831.1:n.964-305A>G
NM_001354903.1:c.934-305A>G	NP_001341832.1:n.934-305A>G
NM_001354904.1:c.859-305A>G	NP_001341833.1:n.859-305A>G
NM_001354905.1:c.757-305A>G	NP_001341834.1:n.757-305A>G
NM_001354906.1:c.85-2A>G	NP_001341835.1:n.85-2A>G
NM_000038.6:c.934-2A>G MANE Select	NP_000029.2:n.934-2A>G
NM_001127510.3:c.934-2A>G	NP_001120982.1:n.934-2A>G
NM_001127511.3:c.880-2A>G	NP_001120983.2:n.880-2A>G
NM_001354895.2:c.934-2A>G	NP_001341824.1:n.934-2A>G
NM_001354896.2:c.934-2A>G	NP_001341825.1:n.934-2A>G
NM_001354897.2:c.964-2A>G	NP_001341826.1:n.964-2A>G
NM_001354898.2:c.859-2A>G	NP_001341827.1:n.859-2A>G
NM_001354899.2:c.850-2A>G	NP_001341828.1:n.850-2A>G
NM_001354900.2:c.757-2A>G	NP_001341829.1:n.757-2A>G
NM_001354901.2:c.757-2A>G	NP_001341830.1:n.757-2A>G
NM_001354902.2:c.964-305A>G	NP_001341831.1:n.964-305A>G
NM_001354903.2:c.934-305A>G	NP_001341832.1:n.934-305A>G
NM_001354904.2:c.859-305A>G	NP_001341833.1:n.859-305A>G
NM_001354905.2:c.757-305A>G	NP_001341834.1:n.757-305A>G
NM_001354906.2:c.85-2A>G	NP_001341835.1:n.85-2A>G