Canonical Allele Identifier: CA16024303

Gene: APC

Linked Data

• ClinVar Variation Id: 433620
• ClinVar RCV Id: RCV001186209 ; RCV001643225 ; RCV002286743 ; RCV002524125 ; RCV003743762
• dbSNP Id: rs1060503333
• COSMIC: COSM4166212
• MyVariant Identifiers: chr5:g.112157650C>A (hg19) ; chr5:g.112821953C>A (hg38)
• PubMed: PMID:9950360 ; PMID:20223039 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821953C>A , CM000667.2:g.112821953C>A	GRCh38
NC_000005.9:g.112157650C>A , CM000667.1:g.112157650C>A	GRCh37
NC_000005.8:g.112185549C>A	NCBI36
NG_008481.4:g.134433C>A , LRG_130:g.134433C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1370C>A	ENSP00000484935.2:p.Ser457Ter
ENST00000504915.3:c.1370C>A	ENSP00000473355.2:p.Ser457Ter
ENST00000505084.2:n.1426C>A
ENST00000505350.2:c.*1376C>A	ENSP00000481752.1:n.*1376C>A
ENST00000507379.6:c.1316C>A	ENSP00000423224.2:p.Ser439Ter
ENST00000509732.6:c.1370C>A	ENSP00000426541.2:p.Ser457Ter
ENST00000512211.7:c.1370C>A	ENSP00000423828.3:p.Ser457Ter
ENST00000257430.9:c.1370C>A MANE Select	ENSP00000257430.4:p.Ser457Ter
ENST00000257430.8:c.1370C>A	ENSP00000257430.4:p.Ser457Ter
ENST00000502371.2:c.58C>A
ENST00000504915.2:c.5C>A	ENSP00000473355.1:p.Ser2Ter
ENST00000507379.5:c.1316C>A	ENSP00000423224.1:p.Ser439Ter
ENST00000508376.6:c.1370C>A	ENSP00000427089.2:p.Ser457Ter
ENST00000508624.5:c.*692C>A	ENSP00000424265.1:n.*692C>A
ENST00000512211.6:c.1370C>A	ENSP00000423828.2:p.Ser457Ter
NM_000038.5:c.1370C>A	NP_000029.2:p.Ser457Ter
NM_001127510.2:c.1370C>A	NP_001120982.1:p.Ser457Ter
NM_001127511.2:c.1316C>A	NP_001120983.2:p.Ser439Ter
NM_001354895.1:c.1370C>A	NP_001341824.1:p.Ser457Ter
NM_001354896.1:c.1370C>A	NP_001341825.1:p.Ser457Ter
NM_001354897.1:c.1400C>A	NP_001341826.1:p.Ser467Ter
NM_001354898.1:c.1295C>A	NP_001341827.1:p.Ser432Ter
NM_001354899.1:c.1286C>A	NP_001341828.1:p.Ser429Ter
NM_001354900.1:c.1193C>A	NP_001341829.1:p.Ser398Ter
NM_001354901.1:c.1193C>A	NP_001341830.1:p.Ser398Ter
NM_001354902.1:c.1097C>A	NP_001341831.1:p.Ser366Ter
NM_001354903.1:c.1067C>A	NP_001341832.1:p.Ser356Ter
NM_001354904.1:c.992C>A	NP_001341833.1:p.Ser331Ter
NM_001354905.1:c.890C>A	NP_001341834.1:p.Ser297Ter
NM_001354906.1:c.521C>A	NP_001341835.1:p.Ser174Ter
NM_000038.6:c.1370C>A MANE Select	NP_000029.2:p.Ser457Ter
NM_001127510.3:c.1370C>A	NP_001120982.1:p.Ser457Ter
NM_001127511.3:c.1316C>A	NP_001120983.2:p.Ser439Ter
NM_001354895.2:c.1370C>A	NP_001341824.1:p.Ser457Ter
NM_001354896.2:c.1370C>A	NP_001341825.1:p.Ser457Ter
NM_001354897.2:c.1400C>A	NP_001341826.1:p.Ser467Ter
NM_001354898.2:c.1295C>A	NP_001341827.1:p.Ser432Ter
NM_001354899.2:c.1286C>A	NP_001341828.1:p.Ser429Ter
NM_001354900.2:c.1193C>A	NP_001341829.1:p.Ser398Ter
NM_001354901.2:c.1193C>A	NP_001341830.1:p.Ser398Ter
NM_001354902.2:c.1097C>A	NP_001341831.1:p.Ser366Ter
NM_001354903.2:c.1067C>A	NP_001341832.1:p.Ser356Ter
NM_001354904.2:c.992C>A	NP_001341833.1:p.Ser331Ter
NM_001354905.2:c.890C>A	NP_001341834.1:p.Ser297Ter
NM_001354906.2:c.521C>A	NP_001341835.1:p.Ser174Ter