Canonical Allele Identifier: CA16037774

Gene: APC

Linked Data

• ClinVar Variation Id: 411487
• ClinVar RCV Id: RCV000573204 ; RCV002523388
• dbSNP Id: rs763438389
• gnomAD v2: 5-112178856-C-G
• gnomAD v4: 5-112843159-C-G
• MyVariant Identifiers: chr5:g.112178856C>G (hg19) ; chr5:g.112843159C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843159C>G , CM000667.2:g.112843159C>G	GRCh38
NC_000005.9:g.112178856C>G , CM000667.1:g.112178856C>G	GRCh37
NC_000005.8:g.112206755C>G	NCBI36
NG_008481.4:g.155639C>G , LRG_130:g.155639C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7619C>G	ENSP00000473355.2:p.Pro2540Arg
ENST00000505350.2:c.*7571C>G	ENSP00000481752.1:n.*7571C>G
ENST00000507379.6:c.7511C>G	ENSP00000423224.2:p.Pro2504Arg
ENST00000509732.6:c.7565C>G	ENSP00000426541.2:p.Pro2522Arg
ENST00000512211.7:c.7565C>G	ENSP00000423828.3:p.Pro2522Arg
ENST00000257430.9:c.7565C>G MANE Select	ENSP00000257430.4:p.Pro2522Arg
ENST00000257430.8:c.7565C>G	ENSP00000257430.4:p.Pro2522Arg
ENST00000508376.6:c.7565C>G	ENSP00000427089.2:p.Pro2522Arg
ENST00000520401.1:c.231-13490C>G
NM_000038.5:c.7565C>G	NP_000029.2:p.Pro2522Arg
NM_001127510.2:c.7565C>G	NP_001120982.1:p.Pro2522Arg
NM_001127511.2:c.7511C>G	NP_001120983.2:p.Pro2504Arg
NM_001354895.1:c.7565C>G	NP_001341824.1:p.Pro2522Arg
NM_001354896.1:c.7619C>G	NP_001341825.1:p.Pro2540Arg
NM_001354897.1:c.7595C>G	NP_001341826.1:p.Pro2532Arg
NM_001354898.1:c.7490C>G	NP_001341827.1:p.Pro2497Arg
NM_001354899.1:c.7481C>G	NP_001341828.1:p.Pro2494Arg
NM_001354900.1:c.7442C>G	NP_001341829.1:p.Pro2481Arg
NM_001354901.1:c.7388C>G	NP_001341830.1:p.Pro2463Arg
NM_001354902.1:c.7292C>G	NP_001341831.1:p.Pro2431Arg
NM_001354903.1:c.7262C>G	NP_001341832.1:p.Pro2421Arg
NM_001354904.1:c.7187C>G	NP_001341833.1:p.Pro2396Arg
NM_001354905.1:c.7085C>G	NP_001341834.1:p.Pro2362Arg
NM_001354906.1:c.6716C>G	NP_001341835.1:p.Pro2239Arg
NM_000038.6:c.7565C>G MANE Select	NP_000029.2:p.Pro2522Arg
NM_001127510.3:c.7565C>G	NP_001120982.1:p.Pro2522Arg
NM_001127511.3:c.7511C>G	NP_001120983.2:p.Pro2504Arg
NM_001354895.2:c.7565C>G	NP_001341824.1:p.Pro2522Arg
NM_001354896.2:c.7619C>G	NP_001341825.1:p.Pro2540Arg
NM_001354897.2:c.7595C>G	NP_001341826.1:p.Pro2532Arg
NM_001354898.2:c.7490C>G	NP_001341827.1:p.Pro2497Arg
NM_001354899.2:c.7481C>G	NP_001341828.1:p.Pro2494Arg
NM_001354900.2:c.7442C>G	NP_001341829.1:p.Pro2481Arg
NM_001354901.2:c.7388C>G	NP_001341830.1:p.Pro2463Arg
NM_001354902.2:c.7292C>G	NP_001341831.1:p.Pro2431Arg
NM_001354903.2:c.7262C>G	NP_001341832.1:p.Pro2421Arg
NM_001354904.2:c.7187C>G	NP_001341833.1:p.Pro2396Arg
NM_001354905.2:c.7085C>G	NP_001341834.1:p.Pro2362Arg
NM_001354906.2:c.6716C>G	NP_001341835.1:p.Pro2239Arg