Canonical Allele Identifier: CA446209679

Gene: APC

Linked Data

• ClinVar Variation Id: 3230713
• ClinVar RCV Id: RCV004522828
• gnomAD v4: 5-112840871-A-G
• MyVariant Identifiers: chr5:g.112176568A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840871A>G , CM000667.2:g.112840871A>G	GRCh38
NC_000005.9:g.112176568A>G , CM000667.1:g.112176568A>G	GRCh37
NC_000005.8:g.112204467A>G	NCBI36
NG_008481.4:g.153351A>G , LRG_130:g.153351A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5331A>G	ENSP00000473355.2:p.Ala1777=
ENST00000505350.2:c.*5283A>G	ENSP00000481752.1:n.*5283A>G
ENST00000507379.6:c.5223A>G	ENSP00000423224.2:p.Ala1741=
ENST00000509732.6:c.5277A>G	ENSP00000426541.2:p.Ala1759=
ENST00000512211.7:c.5277A>G	ENSP00000423828.3:p.Ala1759=
ENST00000257430.9:c.5277A>G MANE Select	ENSP00000257430.4:p.Ala1759=
ENST00000257430.8:c.5277A>G	ENSP00000257430.4:p.Ala1759=
ENST00000508376.6:c.5277A>G	ENSP00000427089.2:p.Ala1759=
ENST00000508624.5:c.*4599A>G	ENSP00000424265.1:n.*4599A>G
ENST00000520401.1:c.230+11899A>G
NM_000038.5:c.5277A>G	NP_000029.2:p.Ala1759=
NM_001127510.2:c.5277A>G	NP_001120982.1:p.Ala1759=
NM_001127511.2:c.5223A>G	NP_001120983.2:p.Ala1741=
NM_001354895.1:c.5277A>G	NP_001341824.1:p.Ala1759=
NM_001354896.1:c.5331A>G	NP_001341825.1:p.Ala1777=
NM_001354897.1:c.5307A>G	NP_001341826.1:p.Ala1769=
NM_001354898.1:c.5202A>G	NP_001341827.1:p.Ala1734=
NM_001354899.1:c.5193A>G	NP_001341828.1:p.Ala1731=
NM_001354900.1:c.5154A>G	NP_001341829.1:p.Ala1718=
NM_001354901.1:c.5100A>G	NP_001341830.1:p.Ala1700=
NM_001354902.1:c.5004A>G	NP_001341831.1:p.Ala1668=
NM_001354903.1:c.4974A>G	NP_001341832.1:p.Ala1658=
NM_001354904.1:c.4899A>G	NP_001341833.1:p.Ala1633=
NM_001354905.1:c.4797A>G	NP_001341834.1:p.Ala1599=
NM_001354906.1:c.4428A>G	NP_001341835.1:p.Ala1476=
NM_000038.6:c.5277A>G MANE Select	NP_000029.2:p.Ala1759=
NM_001127510.3:c.5277A>G	NP_001120982.1:p.Ala1759=
NM_001127511.3:c.5223A>G	NP_001120983.2:p.Ala1741=
NM_001354895.2:c.5277A>G	NP_001341824.1:p.Ala1759=
NM_001354896.2:c.5331A>G	NP_001341825.1:p.Ala1777=
NM_001354897.2:c.5307A>G	NP_001341826.1:p.Ala1769=
NM_001354898.2:c.5202A>G	NP_001341827.1:p.Ala1734=
NM_001354899.2:c.5193A>G	NP_001341828.1:p.Ala1731=
NM_001354900.2:c.5154A>G	NP_001341829.1:p.Ala1718=
NM_001354901.2:c.5100A>G	NP_001341830.1:p.Ala1700=
NM_001354902.2:c.5004A>G	NP_001341831.1:p.Ala1668=
NM_001354903.2:c.4974A>G	NP_001341832.1:p.Ala1658=
NM_001354904.2:c.4899A>G	NP_001341833.1:p.Ala1633=
NM_001354905.2:c.4797A>G	NP_001341834.1:p.Ala1599=
NM_001354906.2:c.4428A>G	NP_001341835.1:p.Ala1476=