Canonical Allele Identifier: CA10584052

Gene: APC

Linked Data

• ClinVar Variation Id: 243005
• ClinVar RCV Id: RCV001290975 ; RCV001559545 ; RCV003743685
• dbSNP Id: rs879253783
• gnomAD v4: 5-112707527-T-C
• MyVariant Identifiers: chr5:g.112043224T>C (hg19) ; chr5:g.112707527T>C (hg38)
• PubMed: PMID:21813476 ; PMID:27087319

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707527T>C , CM000667.2:g.112707527T>C	GRCh38
NC_000005.9:g.112043224T>C , CM000667.1:g.112043224T>C	GRCh37
NC_000005.8:g.112071123T>C	NCBI36
NG_008481.4:g.20007T>C , LRG_130:g.20007T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000505350.2:c.-191T>C	ENSP00000481752.1:n.-191T>C
ENST00000507379.6:c.-191T>C	ENSP00000423224.2:n.-191T>C
ENST00000509732.6:c.-141T>C	ENSP00000426541.2:n.-141T>C
ENST00000505350.1:c.-191T>C	ENSP00000481752.1:n.-191T>C
ENST00000507379.5:c.-191T>C	ENSP00000423224.1:n.-191T>C
ENST00000509732.5:c.-141T>C	ENSP00000426541.1:n.-141T>C
NM_001127511.2:c.-191T>C	NP_001120983.2:n.-191T>C
NM_001354895.1:c.-374T>C	NP_001341824.1:n.-374T>C
NM_001354897.1:c.-191T>C	NP_001341826.1:n.-191T>C
NM_001354902.1:c.-191T>C	NP_001341831.1:n.-191T>C
NM_001127511.3:c.-191T>C	NP_001120983.2:n.-191T>C
NM_001354895.2:c.-374T>C	NP_001341824.1:n.-374T>C
NM_001354897.2:c.-191T>C	NP_001341826.1:n.-191T>C
NM_001354902.2:c.-191T>C	NP_001341831.1:n.-191T>C