Canonical Allele Identifier: CA248496

Gene: APC

Linked Data

• ClinVar Variation Id: 218007
• ClinVar RCV Id: RCV000201984 ; RCV002517338 ; RCV003534487
• dbSNP Id: rs755046558
• MyVariant Identifiers: chr5:g.112178802G>A (hg19) ; chr5:g.112843105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843105G>A , CM000667.2:g.112843105G>A	GRCh38
NC_000005.9:g.112178802G>A , CM000667.1:g.112178802G>A	GRCh37
NC_000005.8:g.112206701G>A	NCBI36
NG_008481.4:g.155585G>A , LRG_130:g.155585G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7565G>A	ENSP00000473355.2:p.Trp2522Ter
ENST00000505350.2:c.*7517G>A	ENSP00000481752.1:n.*7517G>A
ENST00000507379.6:c.7457G>A	ENSP00000423224.2:p.Trp2486Ter
ENST00000509732.6:c.7511G>A	ENSP00000426541.2:p.Trp2504Ter
ENST00000512211.7:c.7511G>A	ENSP00000423828.3:p.Trp2504Ter
ENST00000257430.9:c.7511G>A MANE Select	ENSP00000257430.4:p.Trp2504Ter
ENST00000257430.8:c.7511G>A	ENSP00000257430.4:p.Trp2504Ter
ENST00000508376.6:c.7511G>A	ENSP00000427089.2:p.Trp2504Ter
ENST00000520401.1:c.231-13544G>A
NM_000038.5:c.7511G>A	NP_000029.2:p.Trp2504Ter
NM_001127510.2:c.7511G>A	NP_001120982.1:p.Trp2504Ter
NM_001127511.2:c.7457G>A	NP_001120983.2:p.Trp2486Ter
NM_001354895.1:c.7511G>A	NP_001341824.1:p.Trp2504Ter
NM_001354896.1:c.7565G>A	NP_001341825.1:p.Trp2522Ter
NM_001354897.1:c.7541G>A	NP_001341826.1:p.Trp2514Ter
NM_001354898.1:c.7436G>A	NP_001341827.1:p.Trp2479Ter
NM_001354899.1:c.7427G>A	NP_001341828.1:p.Trp2476Ter
NM_001354900.1:c.7388G>A	NP_001341829.1:p.Trp2463Ter
NM_001354901.1:c.7334G>A	NP_001341830.1:p.Trp2445Ter
NM_001354902.1:c.7238G>A	NP_001341831.1:p.Trp2413Ter
NM_001354903.1:c.7208G>A	NP_001341832.1:p.Trp2403Ter
NM_001354904.1:c.7133G>A	NP_001341833.1:p.Trp2378Ter
NM_001354905.1:c.7031G>A	NP_001341834.1:p.Trp2344Ter
NM_001354906.1:c.6662G>A	NP_001341835.1:p.Trp2221Ter
NM_000038.6:c.7511G>A MANE Select	NP_000029.2:p.Trp2504Ter
NM_001127510.3:c.7511G>A	NP_001120982.1:p.Trp2504Ter
NM_001127511.3:c.7457G>A	NP_001120983.2:p.Trp2486Ter
NM_001354895.2:c.7511G>A	NP_001341824.1:p.Trp2504Ter
NM_001354896.2:c.7565G>A	NP_001341825.1:p.Trp2522Ter
NM_001354897.2:c.7541G>A	NP_001341826.1:p.Trp2514Ter
NM_001354898.2:c.7436G>A	NP_001341827.1:p.Trp2479Ter
NM_001354899.2:c.7427G>A	NP_001341828.1:p.Trp2476Ter
NM_001354900.2:c.7388G>A	NP_001341829.1:p.Trp2463Ter
NM_001354901.2:c.7334G>A	NP_001341830.1:p.Trp2445Ter
NM_001354902.2:c.7238G>A	NP_001341831.1:p.Trp2413Ter
NM_001354903.2:c.7208G>A	NP_001341832.1:p.Trp2403Ter
NM_001354904.2:c.7133G>A	NP_001341833.1:p.Trp2378Ter
NM_001354905.2:c.7031G>A	NP_001341834.1:p.Trp2344Ter
NM_001354906.2:c.6662G>A	NP_001341835.1:p.Trp2221Ter