Canonical Allele Identifier: CA16042089

Gene: APC

Linked Data

• ClinVar Variation Id: 371831
• ClinVar RCV Id: RCV000410141 ; RCV000491460 ; RCV003743702 ; RCV003316510
• dbSNP Id: rs1057517559
• gnomAD v4: 5-112815595-T-C
• COSMIC: COSM6448429
• MyVariant Identifiers: chr5:g.112151292T>C (hg19) ; chr5:g.112815595T>C (hg38)
• PubMed: PMID:15459959 ; PMID:20223039 ; PMID:20685668 ; PMID:23159591

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112815595T>C , CM000667.2:g.112815595T>C	GRCh38
NC_000005.9:g.112151292T>C , CM000667.1:g.112151292T>C	GRCh37
NC_000005.8:g.112179191T>C	NCBI36
NG_008481.4:g.128075T>C , LRG_130:g.128075T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.933+2T>C	ENSP00000484935.2:n.933+2T>C
ENST00000504915.3:c.933+2T>C	ENSP00000473355.2:n.933+2T>C
ENST00000505084.2:n.989+2T>C
ENST00000505350.2:c.*939+2T>C	ENSP00000481752.1:n.*939+2T>C
ENST00000507379.6:c.879+2T>C	ENSP00000423224.2:n.879+2T>C
ENST00000509732.6:c.933+2T>C	ENSP00000426541.2:n.933+2T>C
ENST00000512211.7:c.933+2T>C	ENSP00000423828.3:n.933+2T>C
ENST00000257430.9:c.933+2T>C MANE Select	ENSP00000257430.4:n.933+2T>C
ENST00000257430.8:c.933+2T>C	ENSP00000257430.4:n.933+2T>C
ENST00000507379.5:c.879+2T>C	ENSP00000423224.1:n.879+2T>C
ENST00000508376.6:c.933+2T>C	ENSP00000427089.2:n.933+2T>C
ENST00000508624.5:c.*255+2T>C	ENSP00000424265.1:n.*255+2T>C
ENST00000512211.6:c.933+2T>C	ENSP00000423828.2:n.933+2T>C
NM_000038.5:c.933+2T>C	NP_000029.2:n.933+2T>C
NM_001127510.2:c.933+2T>C	NP_001120982.1:n.933+2T>C
NM_001127511.2:c.879+2T>C	NP_001120983.2:n.879+2T>C
NM_001354895.1:c.933+2T>C	NP_001341824.1:n.933+2T>C
NM_001354896.1:c.933+2T>C	NP_001341825.1:n.933+2T>C
NM_001354897.1:c.963+2T>C	NP_001341826.1:n.963+2T>C
NM_001354898.1:c.858+2T>C	NP_001341827.1:n.858+2T>C
NM_001354899.1:c.849+2T>C	NP_001341828.1:n.849+2T>C
NM_001354900.1:c.756+2T>C	NP_001341829.1:n.756+2T>C
NM_001354901.1:c.756+2T>C	NP_001341830.1:n.756+2T>C
NM_001354902.1:c.963+2T>C	NP_001341831.1:n.963+2T>C
NM_001354903.1:c.933+2T>C	NP_001341832.1:n.933+2T>C
NM_001354904.1:c.858+2T>C	NP_001341833.1:n.858+2T>C
NM_001354905.1:c.756+2T>C	NP_001341834.1:n.756+2T>C
NM_001354906.1:c.84+2T>C	NP_001341835.1:n.84+2T>C
NM_000038.6:c.933+2T>C MANE Select	NP_000029.2:n.933+2T>C
NM_001127510.3:c.933+2T>C	NP_001120982.1:n.933+2T>C
NM_001127511.3:c.879+2T>C	NP_001120983.2:n.879+2T>C
NM_001354895.2:c.933+2T>C	NP_001341824.1:n.933+2T>C
NM_001354896.2:c.933+2T>C	NP_001341825.1:n.933+2T>C
NM_001354897.2:c.963+2T>C	NP_001341826.1:n.963+2T>C
NM_001354898.2:c.858+2T>C	NP_001341827.1:n.858+2T>C
NM_001354899.2:c.849+2T>C	NP_001341828.1:n.849+2T>C
NM_001354900.2:c.756+2T>C	NP_001341829.1:n.756+2T>C
NM_001354901.2:c.756+2T>C	NP_001341830.1:n.756+2T>C
NM_001354902.2:c.963+2T>C	NP_001341831.1:n.963+2T>C
NM_001354903.2:c.933+2T>C	NP_001341832.1:n.933+2T>C
NM_001354904.2:c.858+2T>C	NP_001341833.1:n.858+2T>C
NM_001354905.2:c.756+2T>C	NP_001341834.1:n.756+2T>C
NM_001354906.2:c.84+2T>C	NP_001341835.1:n.84+2T>C