Canonical Allele Identifier: CA16032165

Gene: APC

Linked Data

• dbSNP Id: rs1345725138
• gnomAD v3: 5-112840542-A-G
• gnomAD v4: 5-112840542-A-G
• MyVariant Identifiers: chr5:g.112176239A>G (hg19) ; chr5:g.112840542A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840542A>G , CM000667.2:g.112840542A>G	GRCh38
NC_000005.9:g.112176239A>G , CM000667.1:g.112176239A>G	GRCh37
NC_000005.8:g.112204138A>G	NCBI36
NG_008481.4:g.153022A>G , LRG_130:g.153022A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5002A>G	ENSP00000473355.2:p.Asn1668Asp
ENST00000505350.2:c.*4954A>G	ENSP00000481752.1:n.*4954A>G
ENST00000507379.6:c.4894A>G	ENSP00000423224.2:p.Asn1632Asp
ENST00000509732.6:c.4948A>G	ENSP00000426541.2:p.Asn1650Asp
ENST00000512211.7:c.4948A>G	ENSP00000423828.3:p.Asn1650Asp
ENST00000257430.9:c.4948A>G MANE Select	ENSP00000257430.4:p.Asn1650Asp
ENST00000257430.8:c.4948A>G	ENSP00000257430.4:p.Asn1650Asp
ENST00000508376.6:c.4948A>G	ENSP00000427089.2:p.Asn1650Asp
ENST00000508624.5:c.*4270A>G	ENSP00000424265.1:n.*4270A>G
ENST00000520401.1:c.230+11570A>G
NM_000038.5:c.4948A>G	NP_000029.2:p.Asn1650Asp
NM_001127510.2:c.4948A>G	NP_001120982.1:p.Asn1650Asp
NM_001127511.2:c.4894A>G	NP_001120983.2:p.Asn1632Asp
NM_001354895.1:c.4948A>G	NP_001341824.1:p.Asn1650Asp
NM_001354896.1:c.5002A>G	NP_001341825.1:p.Asn1668Asp
NM_001354897.1:c.4978A>G	NP_001341826.1:p.Asn1660Asp
NM_001354898.1:c.4873A>G	NP_001341827.1:p.Asn1625Asp
NM_001354899.1:c.4864A>G	NP_001341828.1:p.Asn1622Asp
NM_001354900.1:c.4825A>G	NP_001341829.1:p.Asn1609Asp
NM_001354901.1:c.4771A>G	NP_001341830.1:p.Asn1591Asp
NM_001354902.1:c.4675A>G	NP_001341831.1:p.Asn1559Asp
NM_001354903.1:c.4645A>G	NP_001341832.1:p.Asn1549Asp
NM_001354904.1:c.4570A>G	NP_001341833.1:p.Asn1524Asp
NM_001354905.1:c.4468A>G	NP_001341834.1:p.Asn1490Asp
NM_001354906.1:c.4099A>G	NP_001341835.1:p.Asn1367Asp
NM_000038.6:c.4948A>G MANE Select	NP_000029.2:p.Asn1650Asp
NM_001127510.3:c.4948A>G	NP_001120982.1:p.Asn1650Asp
NM_001127511.3:c.4894A>G	NP_001120983.2:p.Asn1632Asp
NM_001354895.2:c.4948A>G	NP_001341824.1:p.Asn1650Asp
NM_001354896.2:c.5002A>G	NP_001341825.1:p.Asn1668Asp
NM_001354897.2:c.4978A>G	NP_001341826.1:p.Asn1660Asp
NM_001354898.2:c.4873A>G	NP_001341827.1:p.Asn1625Asp
NM_001354899.2:c.4864A>G	NP_001341828.1:p.Asn1622Asp
NM_001354900.2:c.4825A>G	NP_001341829.1:p.Asn1609Asp
NM_001354901.2:c.4771A>G	NP_001341830.1:p.Asn1591Asp
NM_001354902.2:c.4675A>G	NP_001341831.1:p.Asn1559Asp
NM_001354903.2:c.4645A>G	NP_001341832.1:p.Asn1549Asp
NM_001354904.2:c.4570A>G	NP_001341833.1:p.Asn1524Asp
NM_001354905.2:c.4468A>G	NP_001341834.1:p.Asn1490Asp
NM_001354906.2:c.4099A>G	NP_001341835.1:p.Asn1367Asp