Canonical Allele Identifier: CA16024318

Gene: APC

Linked Data

• ClinVar Variation Id: 487006
• ClinVar RCV Id: RCV000563425 ; RCV003767243
• dbSNP Id: rs1554080714
• MyVariant Identifiers: chr5:g.112157656A>G (hg19) ; chr5:g.112821959A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821959A>G , CM000667.2:g.112821959A>G	GRCh38
NC_000005.9:g.112157656A>G , CM000667.1:g.112157656A>G	GRCh37
NC_000005.8:g.112185555A>G	NCBI36
NG_008481.4:g.134439A>G , LRG_130:g.134439A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1376A>G	ENSP00000484935.2:p.Asp459Gly
ENST00000504915.3:c.1376A>G	ENSP00000473355.2:p.Asp459Gly
ENST00000505084.2:n.1432A>G
ENST00000505350.2:c.*1382A>G	ENSP00000481752.1:n.*1382A>G
ENST00000507379.6:c.1322A>G	ENSP00000423224.2:p.Asp441Gly
ENST00000509732.6:c.1376A>G	ENSP00000426541.2:p.Asp459Gly
ENST00000512211.7:c.1376A>G	ENSP00000423828.3:p.Asp459Gly
ENST00000257430.9:c.1376A>G MANE Select	ENSP00000257430.4:p.Asp459Gly
ENST00000257430.8:c.1376A>G	ENSP00000257430.4:p.Asp459Gly
ENST00000502371.2:c.64A>G
ENST00000504915.2:c.11A>G	ENSP00000473355.1:p.Asp4Gly
ENST00000507379.5:c.1322A>G	ENSP00000423224.1:p.Asp441Gly
ENST00000508376.6:c.1376A>G	ENSP00000427089.2:p.Asp459Gly
ENST00000508624.5:c.*698A>G	ENSP00000424265.1:n.*698A>G
ENST00000512211.6:c.1376A>G	ENSP00000423828.2:p.Asp459Gly
NM_000038.5:c.1376A>G	NP_000029.2:p.Asp459Gly
NM_001127510.2:c.1376A>G	NP_001120982.1:p.Asp459Gly
NM_001127511.2:c.1322A>G	NP_001120983.2:p.Asp441Gly
NM_001354895.1:c.1376A>G	NP_001341824.1:p.Asp459Gly
NM_001354896.1:c.1376A>G	NP_001341825.1:p.Asp459Gly
NM_001354897.1:c.1406A>G	NP_001341826.1:p.Asp469Gly
NM_001354898.1:c.1301A>G	NP_001341827.1:p.Asp434Gly
NM_001354899.1:c.1292A>G	NP_001341828.1:p.Asp431Gly
NM_001354900.1:c.1199A>G	NP_001341829.1:p.Asp400Gly
NM_001354901.1:c.1199A>G	NP_001341830.1:p.Asp400Gly
NM_001354902.1:c.1103A>G	NP_001341831.1:p.Asp368Gly
NM_001354903.1:c.1073A>G	NP_001341832.1:p.Asp358Gly
NM_001354904.1:c.998A>G	NP_001341833.1:p.Asp333Gly
NM_001354905.1:c.896A>G	NP_001341834.1:p.Asp299Gly
NM_001354906.1:c.527A>G	NP_001341835.1:p.Asp176Gly
NM_000038.6:c.1376A>G MANE Select	NP_000029.2:p.Asp459Gly
NM_001127510.3:c.1376A>G	NP_001120982.1:p.Asp459Gly
NM_001127511.3:c.1322A>G	NP_001120983.2:p.Asp441Gly
NM_001354895.2:c.1376A>G	NP_001341824.1:p.Asp459Gly
NM_001354896.2:c.1376A>G	NP_001341825.1:p.Asp459Gly
NM_001354897.2:c.1406A>G	NP_001341826.1:p.Asp469Gly
NM_001354898.2:c.1301A>G	NP_001341827.1:p.Asp434Gly
NM_001354899.2:c.1292A>G	NP_001341828.1:p.Asp431Gly
NM_001354900.2:c.1199A>G	NP_001341829.1:p.Asp400Gly
NM_001354901.2:c.1199A>G	NP_001341830.1:p.Asp400Gly
NM_001354902.2:c.1103A>G	NP_001341831.1:p.Asp368Gly
NM_001354903.2:c.1073A>G	NP_001341832.1:p.Asp358Gly
NM_001354904.2:c.998A>G	NP_001341833.1:p.Asp333Gly
NM_001354905.2:c.896A>G	NP_001341834.1:p.Asp299Gly
NM_001354906.2:c.527A>G	NP_001341835.1:p.Asp176Gly