Canonical Allele Identifier: CA802057187

Gene: APC

Linked Data

• ClinVar Variation Id: 651746
• ClinVar RCV Id: RCV003535969
• dbSNP Id: rs1337548978
• gnomAD v3: 5-112707613-G-C
• gnomAD v4: 5-112707613-G-C
• MyVariant Identifiers: chr5:g.112043310G>C (hg19) ; chr5:g.112707613G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707613G>C , CM000667.2:g.112707613G>C	GRCh38
NC_000005.9:g.112043310G>C , CM000667.1:g.112043310G>C	GRCh37
NC_000005.8:g.112071209G>C	NCBI36
NG_008481.4:g.20093G>C , LRG_130:g.20093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.-105G>C	ENSP00000481752.1:n.-105G>C
ENST00000507379.6:c.-105G>C	ENSP00000423224.2:n.-105G>C
ENST00000509732.6:c.-55G>C	ENSP00000426541.2:n.-55G>C
ENST00000505350.1:c.-105G>C	ENSP00000481752.1:n.-105G>C
ENST00000507379.5:c.-105G>C	ENSP00000423224.1:n.-105G>C
ENST00000509732.5:c.-55G>C	ENSP00000426541.1:n.-55G>C
NM_001127511.2:c.-105G>C	NP_001120983.2:n.-105G>C
NM_001354895.1:c.-288G>C	NP_001341824.1:n.-288G>C
NM_001354897.1:c.-105G>C	NP_001341826.1:n.-105G>C
NM_001354902.1:c.-105G>C	NP_001341831.1:n.-105G>C
NM_001127511.3:c.-105G>C	NP_001120983.2:n.-105G>C
NM_001354895.2:c.-288G>C	NP_001341824.1:n.-288G>C
NM_001354897.2:c.-105G>C	NP_001341826.1:n.-105G>C
NM_001354902.2:c.-105G>C	NP_001341831.1:n.-105G>C