Canonical Allele Identifier: CA040604

Gene: APC

Linked Data

• ClinVar Variation Id: 825419
• ClinVar RCV Id: RCV001023501 ; RCV001157158 ; RCV003537413
• dbSNP Id: rs533667536
• ExAC: 5:112176369 A / G
• gnomAD v2: 5-112176369-A-G
• gnomAD v3: 5-112840672-A-G
• gnomAD v4: 5-112840672-A-G
• MyVariant Identifiers: chr5:g.112176369A>G (hg19) ; chr5:g.112840672A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840672A>G , CM000667.2:g.112840672A>G	GRCh38
NC_000005.9:g.112176369A>G , CM000667.1:g.112176369A>G	GRCh37
NC_000005.8:g.112204268A>G	NCBI36
NG_008481.4:g.153152A>G , LRG_130:g.153152A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5132A>G	ENSP00000473355.2:p.Glu1711Gly
ENST00000505350.2:c.*5084A>G	ENSP00000481752.1:n.*5084A>G
ENST00000507379.6:c.5024A>G	ENSP00000423224.2:p.Glu1675Gly
ENST00000509732.6:c.5078A>G	ENSP00000426541.2:p.Glu1693Gly
ENST00000512211.7:c.5078A>G	ENSP00000423828.3:p.Glu1693Gly
ENST00000257430.9:c.5078A>G MANE Select	ENSP00000257430.4:p.Glu1693Gly
ENST00000257430.8:c.5078A>G	ENSP00000257430.4:p.Glu1693Gly
ENST00000508376.6:c.5078A>G	ENSP00000427089.2:p.Glu1693Gly
ENST00000508624.5:c.*4400A>G	ENSP00000424265.1:n.*4400A>G
ENST00000520401.1:c.230+11700A>G
NM_000038.5:c.5078A>G	NP_000029.2:p.Glu1693Gly
NM_001127510.2:c.5078A>G	NP_001120982.1:p.Glu1693Gly
NM_001127511.2:c.5024A>G	NP_001120983.2:p.Glu1675Gly
NM_001354895.1:c.5078A>G	NP_001341824.1:p.Glu1693Gly
NM_001354896.1:c.5132A>G	NP_001341825.1:p.Glu1711Gly
NM_001354897.1:c.5108A>G	NP_001341826.1:p.Glu1703Gly
NM_001354898.1:c.5003A>G	NP_001341827.1:p.Glu1668Gly
NM_001354899.1:c.4994A>G	NP_001341828.1:p.Glu1665Gly
NM_001354900.1:c.4955A>G	NP_001341829.1:p.Glu1652Gly
NM_001354901.1:c.4901A>G	NP_001341830.1:p.Glu1634Gly
NM_001354902.1:c.4805A>G	NP_001341831.1:p.Glu1602Gly
NM_001354903.1:c.4775A>G	NP_001341832.1:p.Glu1592Gly
NM_001354904.1:c.4700A>G	NP_001341833.1:p.Glu1567Gly
NM_001354905.1:c.4598A>G	NP_001341834.1:p.Glu1533Gly
NM_001354906.1:c.4229A>G	NP_001341835.1:p.Glu1410Gly
NM_000038.6:c.5078A>G MANE Select	NP_000029.2:p.Glu1693Gly
NM_001127510.3:c.5078A>G	NP_001120982.1:p.Glu1693Gly
NM_001127511.3:c.5024A>G	NP_001120983.2:p.Glu1675Gly
NM_001354895.2:c.5078A>G	NP_001341824.1:p.Glu1693Gly
NM_001354896.2:c.5132A>G	NP_001341825.1:p.Glu1711Gly
NM_001354897.2:c.5108A>G	NP_001341826.1:p.Glu1703Gly
NM_001354898.2:c.5003A>G	NP_001341827.1:p.Glu1668Gly
NM_001354899.2:c.4994A>G	NP_001341828.1:p.Glu1665Gly
NM_001354900.2:c.4955A>G	NP_001341829.1:p.Glu1652Gly
NM_001354901.2:c.4901A>G	NP_001341830.1:p.Glu1634Gly
NM_001354902.2:c.4805A>G	NP_001341831.1:p.Glu1602Gly
NM_001354903.2:c.4775A>G	NP_001341832.1:p.Glu1592Gly
NM_001354904.2:c.4700A>G	NP_001341833.1:p.Glu1567Gly
NM_001354905.2:c.4598A>G	NP_001341834.1:p.Glu1533Gly
NM_001354906.2:c.4229A>G	NP_001341835.1:p.Glu1410Gly