Canonical Allele Identifier: CA10584055

Gene: APC

Linked Data

• ClinVar Variation Id: 243008
• ClinVar RCV Id: RCV000234994 ; RCV003650547 ; RCV004020914 ; RCV004020915
• dbSNP Id: rs879253785
• MyVariant Identifiers: chr5:g.112043225G>A (hg19) ; chr5:g.112707528G>A (hg38)
• PubMed: PMID:27087319

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707528G>A , CM000667.2:g.112707528G>A	GRCh38
NC_000005.9:g.112043225G>A , CM000667.1:g.112043225G>A	GRCh37
NC_000005.8:g.112071124G>A	NCBI36
NG_008481.4:g.20008G>A , LRG_130:g.20008G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-190G>A	ENSP00000481752.1:n.-190G>A
ENST00000507379.6:c.-190G>A	ENSP00000423224.2:n.-190G>A
ENST00000509732.6:c.-140G>A	ENSP00000426541.2:n.-140G>A
ENST00000505350.1:c.-190G>A	ENSP00000481752.1:n.-190G>A
ENST00000507379.5:c.-190G>A	ENSP00000423224.1:n.-190G>A
ENST00000509732.5:c.-140G>A	ENSP00000426541.1:n.-140G>A
NM_001127511.2:c.-190G>A	NP_001120983.2:n.-190G>A
NM_001354895.1:c.-373G>A	NP_001341824.1:n.-373G>A
NM_001354897.1:c.-190G>A	NP_001341826.1:n.-190G>A
NM_001354902.1:c.-190G>A	NP_001341831.1:n.-190G>A
NM_001127511.3:c.-190G>A	NP_001120983.2:n.-190G>A
NM_001354895.2:c.-373G>A	NP_001341824.1:n.-373G>A
NM_001354897.2:c.-190G>A	NP_001341826.1:n.-190G>A
NM_001354902.2:c.-190G>A	NP_001341831.1:n.-190G>A