Canonical Allele Identifier: CA446206718

Gene: APC

Linked Data

• ClinVar Variation Id: 487045
• ClinVar RCV Id: RCV000565268 ; RCV000656569 ; RCV003537212
• dbSNP Id: rs863224280
• gnomAD v4: 5-112840355-A-G
• MyVariant Identifiers: chr5:g.112176052A>G (hg19) ; chr5:g.112840355A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840355A>G , CM000667.2:g.112840355A>G	GRCh38
NC_000005.9:g.112176052A>G , CM000667.1:g.112176052A>G	GRCh37
NC_000005.8:g.112203951A>G	NCBI36
NG_008481.4:g.152835A>G , LRG_130:g.152835A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4815A>G	ENSP00000473355.2:p.Ser1605=
ENST00000505350.2:c.*4767A>G	ENSP00000481752.1:n.*4767A>G
ENST00000507379.6:c.4707A>G	ENSP00000423224.2:p.Ser1569=
ENST00000509732.6:c.4761A>G	ENSP00000426541.2:p.Ser1587=
ENST00000512211.7:c.4761A>G	ENSP00000423828.3:p.Ser1587=
ENST00000257430.9:c.4761A>G MANE Select	ENSP00000257430.4:p.Ser1587=
ENST00000257430.8:c.4761A>G	ENSP00000257430.4:p.Ser1587=
ENST00000508376.6:c.4761A>G	ENSP00000427089.2:p.Ser1587=
ENST00000508624.5:c.*4083A>G	ENSP00000424265.1:n.*4083A>G
ENST00000520401.1:c.230+11383A>G
NM_000038.5:c.4761A>G	NP_000029.2:p.Ser1587=
NM_001127510.2:c.4761A>G	NP_001120982.1:p.Ser1587=
NM_001127511.2:c.4707A>G	NP_001120983.2:p.Ser1569=
NM_001354895.1:c.4761A>G	NP_001341824.1:p.Ser1587=
NM_001354896.1:c.4815A>G	NP_001341825.1:p.Ser1605=
NM_001354897.1:c.4791A>G	NP_001341826.1:p.Ser1597=
NM_001354898.1:c.4686A>G	NP_001341827.1:p.Ser1562=
NM_001354899.1:c.4677A>G	NP_001341828.1:p.Ser1559=
NM_001354900.1:c.4638A>G	NP_001341829.1:p.Ser1546=
NM_001354901.1:c.4584A>G	NP_001341830.1:p.Ser1528=
NM_001354902.1:c.4488A>G	NP_001341831.1:p.Ser1496=
NM_001354903.1:c.4458A>G	NP_001341832.1:p.Ser1486=
NM_001354904.1:c.4383A>G	NP_001341833.1:p.Ser1461=
NM_001354905.1:c.4281A>G	NP_001341834.1:p.Ser1427=
NM_001354906.1:c.3912A>G	NP_001341835.1:p.Ser1304=
NM_000038.6:c.4761A>G MANE Select	NP_000029.2:p.Ser1587=
NM_001127510.3:c.4761A>G	NP_001120982.1:p.Ser1587=
NM_001127511.3:c.4707A>G	NP_001120983.2:p.Ser1569=
NM_001354895.2:c.4761A>G	NP_001341824.1:p.Ser1587=
NM_001354896.2:c.4815A>G	NP_001341825.1:p.Ser1605=
NM_001354897.2:c.4791A>G	NP_001341826.1:p.Ser1597=
NM_001354898.2:c.4686A>G	NP_001341827.1:p.Ser1562=
NM_001354899.2:c.4677A>G	NP_001341828.1:p.Ser1559=
NM_001354900.2:c.4638A>G	NP_001341829.1:p.Ser1546=
NM_001354901.2:c.4584A>G	NP_001341830.1:p.Ser1528=
NM_001354902.2:c.4488A>G	NP_001341831.1:p.Ser1496=
NM_001354903.2:c.4458A>G	NP_001341832.1:p.Ser1486=
NM_001354904.2:c.4383A>G	NP_001341833.1:p.Ser1461=
NM_001354905.2:c.4281A>G	NP_001341834.1:p.Ser1427=
NM_001354906.2:c.3912A>G	NP_001341835.1:p.Ser1304=