Canonical Allele Identifier: CA10584053

Gene: APC

Linked Data

• ClinVar Variation Id: 243006
• ClinVar RCV Id: RCV001290976 ; RCV001552789 ; RCV002411065 ; RCV003743686
• dbSNP Id: rs879253784
• gnomAD v2: 5-112043223-A-G
• gnomAD v3: 5-112707526-A-G
• gnomAD v4: 5-112707526-A-G
• MyVariant Identifiers: chr5:g.112043223A>G (hg19) ; chr5:g.112707526A>G (hg38)
• PubMed: PMID:21813476 ; PMID:27087319

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707526A>G , CM000667.2:g.112707526A>G	GRCh38
NC_000005.9:g.112043223A>G , CM000667.1:g.112043223A>G	GRCh37
NC_000005.8:g.112071122A>G	NCBI36
NG_008481.4:g.20006A>G , LRG_130:g.20006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-192A>G	ENSP00000481752.1:n.-192A>G
ENST00000507379.6:c.-192A>G	ENSP00000423224.2:n.-192A>G
ENST00000509732.6:c.-142A>G	ENSP00000426541.2:n.-142A>G
ENST00000505350.1:c.-192A>G	ENSP00000481752.1:n.-192A>G
ENST00000507379.5:c.-192A>G	ENSP00000423224.1:n.-192A>G
ENST00000509732.5:c.-142A>G	ENSP00000426541.1:n.-142A>G
NM_001127511.2:c.-192A>G	NP_001120983.2:n.-192A>G
NM_001354895.1:c.-375A>G	NP_001341824.1:n.-375A>G
NM_001354897.1:c.-192A>G	NP_001341826.1:n.-192A>G
NM_001354902.1:c.-192A>G	NP_001341831.1:n.-192A>G
NM_001127511.3:c.-192A>G	NP_001120983.2:n.-192A>G
NM_001354895.2:c.-375A>G	NP_001341824.1:n.-375A>G
NM_001354897.2:c.-192A>G	NP_001341826.1:n.-192A>G
NM_001354902.2:c.-192A>G	NP_001341831.1:n.-192A>G