Canonical Allele Identifier: CA10584054

Gene: APC

Linked Data

• ClinVar Variation Id: 243007
• ClinVar RCV Id: RCV000234988
• dbSNP Id: rs879253784
• MyVariant Identifiers: chr5:g.112043223A>T (hg19) ; chr5:g.112707526A>T (hg38)
• PubMed: PMID:20685668 ; PMID:27087319

Genomic Alleles

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

Transcript Alleles

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