Canonical Allele Identifier: CA16037616

Gene: APC

Linked Data

• ClinVar Variation Id: 652009
• ClinVar RCV Id: RCV001026485 ; RCV003535973
• dbSNP Id: rs1580683176
• gnomAD v4: 5-112843081-A-G
• MyVariant Identifiers: chr5:g.112178778A>G (hg19) ; chr5:g.112843081A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843081A>G , CM000667.2:g.112843081A>G	GRCh38
NC_000005.9:g.112178778A>G , CM000667.1:g.112178778A>G	GRCh37
NC_000005.8:g.112206677A>G	NCBI36
NG_008481.4:g.155561A>G , LRG_130:g.155561A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7541A>G	ENSP00000473355.2:p.His2514Arg
ENST00000505350.2:c.*7493A>G	ENSP00000481752.1:n.*7493A>G
ENST00000507379.6:c.7433A>G	ENSP00000423224.2:p.His2478Arg
ENST00000509732.6:c.7487A>G	ENSP00000426541.2:p.His2496Arg
ENST00000512211.7:c.7487A>G	ENSP00000423828.3:p.His2496Arg
ENST00000257430.9:c.7487A>G MANE Select	ENSP00000257430.4:p.His2496Arg
ENST00000257430.8:c.7487A>G	ENSP00000257430.4:p.His2496Arg
ENST00000508376.6:c.7487A>G	ENSP00000427089.2:p.His2496Arg
ENST00000520401.1:c.231-13568A>G
NM_000038.5:c.7487A>G	NP_000029.2:p.His2496Arg
NM_001127510.2:c.7487A>G	NP_001120982.1:p.His2496Arg
NM_001127511.2:c.7433A>G	NP_001120983.2:p.His2478Arg
NM_001354895.1:c.7487A>G	NP_001341824.1:p.His2496Arg
NM_001354896.1:c.7541A>G	NP_001341825.1:p.His2514Arg
NM_001354897.1:c.7517A>G	NP_001341826.1:p.His2506Arg
NM_001354898.1:c.7412A>G	NP_001341827.1:p.His2471Arg
NM_001354899.1:c.7403A>G	NP_001341828.1:p.His2468Arg
NM_001354900.1:c.7364A>G	NP_001341829.1:p.His2455Arg
NM_001354901.1:c.7310A>G	NP_001341830.1:p.His2437Arg
NM_001354902.1:c.7214A>G	NP_001341831.1:p.His2405Arg
NM_001354903.1:c.7184A>G	NP_001341832.1:p.His2395Arg
NM_001354904.1:c.7109A>G	NP_001341833.1:p.His2370Arg
NM_001354905.1:c.7007A>G	NP_001341834.1:p.His2336Arg
NM_001354906.1:c.6638A>G	NP_001341835.1:p.His2213Arg
NM_000038.6:c.7487A>G MANE Select	NP_000029.2:p.His2496Arg
NM_001127510.3:c.7487A>G	NP_001120982.1:p.His2496Arg
NM_001127511.3:c.7433A>G	NP_001120983.2:p.His2478Arg
NM_001354895.2:c.7487A>G	NP_001341824.1:p.His2496Arg
NM_001354896.2:c.7541A>G	NP_001341825.1:p.His2514Arg
NM_001354897.2:c.7517A>G	NP_001341826.1:p.His2506Arg
NM_001354898.2:c.7412A>G	NP_001341827.1:p.His2471Arg
NM_001354899.2:c.7403A>G	NP_001341828.1:p.His2468Arg
NM_001354900.2:c.7364A>G	NP_001341829.1:p.His2455Arg
NM_001354901.2:c.7310A>G	NP_001341830.1:p.His2437Arg
NM_001354902.2:c.7214A>G	NP_001341831.1:p.His2405Arg
NM_001354903.2:c.7184A>G	NP_001341832.1:p.His2395Arg
NM_001354904.2:c.7109A>G	NP_001341833.1:p.His2370Arg
NM_001354905.2:c.7007A>G	NP_001341834.1:p.His2336Arg
NM_001354906.2:c.6638A>G	NP_001341835.1:p.His2213Arg