Canonical Allele Identifier: CA16031491

Gene: APC

Linked Data

• ClinVar Variation Id: 2167776
• ClinVar RCV Id: RCV003653675
• dbSNP Id: rs2149919691
• MyVariant Identifiers: chr5:g.112175928A>G (hg19) ; chr5:g.112840231A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840231A>G , CM000667.2:g.112840231A>G	GRCh38
NC_000005.9:g.112175928A>G , CM000667.1:g.112175928A>G	GRCh37
NC_000005.8:g.112203827A>G	NCBI36
NG_008481.4:g.152711A>G , LRG_130:g.152711A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4691A>G	ENSP00000473355.2:p.Asn1564Ser
ENST00000505350.2:c.*4643A>G	ENSP00000481752.1:n.*4643A>G
ENST00000507379.6:c.4583A>G	ENSP00000423224.2:p.Asn1528Ser
ENST00000509732.6:c.4637A>G	ENSP00000426541.2:p.Asn1546Ser
ENST00000512211.7:c.4637A>G	ENSP00000423828.3:p.Asn1546Ser
ENST00000257430.9:c.4637A>G MANE Select	ENSP00000257430.4:p.Asn1546Ser
ENST00000257430.8:c.4637A>G	ENSP00000257430.4:p.Asn1546Ser
ENST00000508376.6:c.4637A>G	ENSP00000427089.2:p.Asn1546Ser
ENST00000508624.5:c.*3959A>G	ENSP00000424265.1:n.*3959A>G
ENST00000520401.1:c.230+11259A>G
NM_000038.5:c.4637A>G	NP_000029.2:p.Asn1546Ser
NM_001127510.2:c.4637A>G	NP_001120982.1:p.Asn1546Ser
NM_001127511.2:c.4583A>G	NP_001120983.2:p.Asn1528Ser
NM_001354895.1:c.4637A>G	NP_001341824.1:p.Asn1546Ser
NM_001354896.1:c.4691A>G	NP_001341825.1:p.Asn1564Ser
NM_001354897.1:c.4667A>G	NP_001341826.1:p.Asn1556Ser
NM_001354898.1:c.4562A>G	NP_001341827.1:p.Asn1521Ser
NM_001354899.1:c.4553A>G	NP_001341828.1:p.Asn1518Ser
NM_001354900.1:c.4514A>G	NP_001341829.1:p.Asn1505Ser
NM_001354901.1:c.4460A>G	NP_001341830.1:p.Asn1487Ser
NM_001354902.1:c.4364A>G	NP_001341831.1:p.Asn1455Ser
NM_001354903.1:c.4334A>G	NP_001341832.1:p.Asn1445Ser
NM_001354904.1:c.4259A>G	NP_001341833.1:p.Asn1420Ser
NM_001354905.1:c.4157A>G	NP_001341834.1:p.Asn1386Ser
NM_001354906.1:c.3788A>G	NP_001341835.1:p.Asn1263Ser
NM_000038.6:c.4637A>G MANE Select	NP_000029.2:p.Asn1546Ser
NM_001127510.3:c.4637A>G	NP_001120982.1:p.Asn1546Ser
NM_001127511.3:c.4583A>G	NP_001120983.2:p.Asn1528Ser
NM_001354895.2:c.4637A>G	NP_001341824.1:p.Asn1546Ser
NM_001354896.2:c.4691A>G	NP_001341825.1:p.Asn1564Ser
NM_001354897.2:c.4667A>G	NP_001341826.1:p.Asn1556Ser
NM_001354898.2:c.4562A>G	NP_001341827.1:p.Asn1521Ser
NM_001354899.2:c.4553A>G	NP_001341828.1:p.Asn1518Ser
NM_001354900.2:c.4514A>G	NP_001341829.1:p.Asn1505Ser
NM_001354901.2:c.4460A>G	NP_001341830.1:p.Asn1487Ser
NM_001354902.2:c.4364A>G	NP_001341831.1:p.Asn1455Ser
NM_001354903.2:c.4334A>G	NP_001341832.1:p.Asn1445Ser
NM_001354904.2:c.4259A>G	NP_001341833.1:p.Asn1420Ser
NM_001354905.2:c.4157A>G	NP_001341834.1:p.Asn1386Ser
NM_001354906.2:c.3788A>G	NP_001341835.1:p.Asn1263Ser