Canonical Allele Identifier: CA16037575

Gene: APC

Linked Data

• ClinVar Variation Id: 1368113
• ClinVar RCV Id: RCV002388729 ; RCV003772575
• dbSNP Id: rs2149987609
• gnomAD v4: 5-112843060-C-G
• MyVariant Identifiers: chr5:g.112178757C>G (hg19) ; chr5:g.112843060C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843060C>G , CM000667.2:g.112843060C>G	GRCh38
NC_000005.9:g.112178757C>G , CM000667.1:g.112178757C>G	GRCh37
NC_000005.8:g.112206656C>G	NCBI36
NG_008481.4:g.155540C>G , LRG_130:g.155540C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7520C>G	ENSP00000473355.2:p.Pro2507Arg
ENST00000505350.2:c.*7472C>G	ENSP00000481752.1:n.*7472C>G
ENST00000507379.6:c.7412C>G	ENSP00000423224.2:p.Pro2471Arg
ENST00000509732.6:c.7466C>G	ENSP00000426541.2:p.Pro2489Arg
ENST00000512211.7:c.7466C>G	ENSP00000423828.3:p.Pro2489Arg
ENST00000257430.9:c.7466C>G MANE Select	ENSP00000257430.4:p.Pro2489Arg
ENST00000257430.8:c.7466C>G	ENSP00000257430.4:p.Pro2489Arg
ENST00000508376.6:c.7466C>G	ENSP00000427089.2:p.Pro2489Arg
ENST00000520401.1:c.231-13589C>G
NM_000038.5:c.7466C>G	NP_000029.2:p.Pro2489Arg
NM_001127510.2:c.7466C>G	NP_001120982.1:p.Pro2489Arg
NM_001127511.2:c.7412C>G	NP_001120983.2:p.Pro2471Arg
NM_001354895.1:c.7466C>G	NP_001341824.1:p.Pro2489Arg
NM_001354896.1:c.7520C>G	NP_001341825.1:p.Pro2507Arg
NM_001354897.1:c.7496C>G	NP_001341826.1:p.Pro2499Arg
NM_001354898.1:c.7391C>G	NP_001341827.1:p.Pro2464Arg
NM_001354899.1:c.7382C>G	NP_001341828.1:p.Pro2461Arg
NM_001354900.1:c.7343C>G	NP_001341829.1:p.Pro2448Arg
NM_001354901.1:c.7289C>G	NP_001341830.1:p.Pro2430Arg
NM_001354902.1:c.7193C>G	NP_001341831.1:p.Pro2398Arg
NM_001354903.1:c.7163C>G	NP_001341832.1:p.Pro2388Arg
NM_001354904.1:c.7088C>G	NP_001341833.1:p.Pro2363Arg
NM_001354905.1:c.6986C>G	NP_001341834.1:p.Pro2329Arg
NM_001354906.1:c.6617C>G	NP_001341835.1:p.Pro2206Arg
NM_000038.6:c.7466C>G MANE Select	NP_000029.2:p.Pro2489Arg
NM_001127510.3:c.7466C>G	NP_001120982.1:p.Pro2489Arg
NM_001127511.3:c.7412C>G	NP_001120983.2:p.Pro2471Arg
NM_001354895.2:c.7466C>G	NP_001341824.1:p.Pro2489Arg
NM_001354896.2:c.7520C>G	NP_001341825.1:p.Pro2507Arg
NM_001354897.2:c.7496C>G	NP_001341826.1:p.Pro2499Arg
NM_001354898.2:c.7391C>G	NP_001341827.1:p.Pro2464Arg
NM_001354899.2:c.7382C>G	NP_001341828.1:p.Pro2461Arg
NM_001354900.2:c.7343C>G	NP_001341829.1:p.Pro2448Arg
NM_001354901.2:c.7289C>G	NP_001341830.1:p.Pro2430Arg
NM_001354902.2:c.7193C>G	NP_001341831.1:p.Pro2398Arg
NM_001354903.2:c.7163C>G	NP_001341832.1:p.Pro2388Arg
NM_001354904.2:c.7088C>G	NP_001341833.1:p.Pro2363Arg
NM_001354905.2:c.6986C>G	NP_001341834.1:p.Pro2329Arg
NM_001354906.2:c.6617C>G	NP_001341835.1:p.Pro2206Arg