Canonical Allele Identifier: CA16033720

Gene: APC

Linked Data

• dbSNP Id: rs2149945815
• gnomAD v4: 5-112841253-A-G
• MyVariant Identifiers: chr5:g.112176950A>G (hg19) ; chr5:g.112841253A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841253A>G , CM000667.2:g.112841253A>G	GRCh38
NC_000005.9:g.112176950A>G , CM000667.1:g.112176950A>G	GRCh37
NC_000005.8:g.112204849A>G	NCBI36
NG_008481.4:g.153733A>G , LRG_130:g.153733A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5713A>G	ENSP00000473355.2:p.Asn1905Asp
ENST00000505350.2:c.*5665A>G	ENSP00000481752.1:n.*5665A>G
ENST00000507379.6:c.5605A>G	ENSP00000423224.2:p.Asn1869Asp
ENST00000509732.6:c.5659A>G	ENSP00000426541.2:p.Asn1887Asp
ENST00000512211.7:c.5659A>G	ENSP00000423828.3:p.Asn1887Asp
ENST00000257430.9:c.5659A>G MANE Select	ENSP00000257430.4:p.Asn1887Asp
ENST00000257430.8:c.5659A>G	ENSP00000257430.4:p.Asn1887Asp
ENST00000508376.6:c.5659A>G	ENSP00000427089.2:p.Asn1887Asp
ENST00000508624.5:c.*4981A>G	ENSP00000424265.1:n.*4981A>G
ENST00000520401.1:c.230+12281A>G
NM_000038.5:c.5659A>G	NP_000029.2:p.Asn1887Asp
NM_001127510.2:c.5659A>G	NP_001120982.1:p.Asn1887Asp
NM_001127511.2:c.5605A>G	NP_001120983.2:p.Asn1869Asp
NM_001354895.1:c.5659A>G	NP_001341824.1:p.Asn1887Asp
NM_001354896.1:c.5713A>G	NP_001341825.1:p.Asn1905Asp
NM_001354897.1:c.5689A>G	NP_001341826.1:p.Asn1897Asp
NM_001354898.1:c.5584A>G	NP_001341827.1:p.Asn1862Asp
NM_001354899.1:c.5575A>G	NP_001341828.1:p.Asn1859Asp
NM_001354900.1:c.5536A>G	NP_001341829.1:p.Asn1846Asp
NM_001354901.1:c.5482A>G	NP_001341830.1:p.Asn1828Asp
NM_001354902.1:c.5386A>G	NP_001341831.1:p.Asn1796Asp
NM_001354903.1:c.5356A>G	NP_001341832.1:p.Asn1786Asp
NM_001354904.1:c.5281A>G	NP_001341833.1:p.Asn1761Asp
NM_001354905.1:c.5179A>G	NP_001341834.1:p.Asn1727Asp
NM_001354906.1:c.4810A>G	NP_001341835.1:p.Asn1604Asp
NM_000038.6:c.5659A>G MANE Select	NP_000029.2:p.Asn1887Asp
NM_001127510.3:c.5659A>G	NP_001120982.1:p.Asn1887Asp
NM_001127511.3:c.5605A>G	NP_001120983.2:p.Asn1869Asp
NM_001354895.2:c.5659A>G	NP_001341824.1:p.Asn1887Asp
NM_001354896.2:c.5713A>G	NP_001341825.1:p.Asn1905Asp
NM_001354897.2:c.5689A>G	NP_001341826.1:p.Asn1897Asp
NM_001354898.2:c.5584A>G	NP_001341827.1:p.Asn1862Asp
NM_001354899.2:c.5575A>G	NP_001341828.1:p.Asn1859Asp
NM_001354900.2:c.5536A>G	NP_001341829.1:p.Asn1846Asp
NM_001354901.2:c.5482A>G	NP_001341830.1:p.Asn1828Asp
NM_001354902.2:c.5386A>G	NP_001341831.1:p.Asn1796Asp
NM_001354903.2:c.5356A>G	NP_001341832.1:p.Asn1786Asp
NM_001354904.2:c.5281A>G	NP_001341833.1:p.Asn1761Asp
NM_001354905.2:c.5179A>G	NP_001341834.1:p.Asn1727Asp
NM_001354906.2:c.4810A>G	NP_001341835.1:p.Asn1604Asp