Canonical Allele Identifier: CA16037879

Gene: APC

Linked Data

• ClinVar Variation Id: 487041
• ClinVar RCV Id: RCV000568735 ; RCV000987585 ; RCV003652049
• dbSNP Id: rs1554088531
• gnomAD v4: 5-112843212-C-G
• MyVariant Identifiers: chr5:g.112178909C>G (hg19) ; chr5:g.112843212C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843212C>G , CM000667.2:g.112843212C>G	GRCh38
NC_000005.9:g.112178909C>G , CM000667.1:g.112178909C>G	GRCh37
NC_000005.8:g.112206808C>G	NCBI36
NG_008481.4:g.155692C>G , LRG_130:g.155692C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7672C>G	ENSP00000473355.2:p.Pro2558Ala
ENST00000505350.2:c.*7624C>G	ENSP00000481752.1:n.*7624C>G
ENST00000507379.6:c.7564C>G	ENSP00000423224.2:p.Pro2522Ala
ENST00000509732.6:c.7618C>G	ENSP00000426541.2:p.Pro2540Ala
ENST00000512211.7:c.7618C>G	ENSP00000423828.3:p.Pro2540Ala
ENST00000257430.9:c.7618C>G MANE Select	ENSP00000257430.4:p.Pro2540Ala
ENST00000257430.8:c.7618C>G	ENSP00000257430.4:p.Pro2540Ala
ENST00000508376.6:c.7618C>G	ENSP00000427089.2:p.Pro2540Ala
ENST00000520401.1:c.231-13437C>G
NM_000038.5:c.7618C>G	NP_000029.2:p.Pro2540Ala
NM_001127510.2:c.7618C>G	NP_001120982.1:p.Pro2540Ala
NM_001127511.2:c.7564C>G	NP_001120983.2:p.Pro2522Ala
NM_001354895.1:c.7618C>G	NP_001341824.1:p.Pro2540Ala
NM_001354896.1:c.7672C>G	NP_001341825.1:p.Pro2558Ala
NM_001354897.1:c.7648C>G	NP_001341826.1:p.Pro2550Ala
NM_001354898.1:c.7543C>G	NP_001341827.1:p.Pro2515Ala
NM_001354899.1:c.7534C>G	NP_001341828.1:p.Pro2512Ala
NM_001354900.1:c.7495C>G	NP_001341829.1:p.Pro2499Ala
NM_001354901.1:c.7441C>G	NP_001341830.1:p.Pro2481Ala
NM_001354902.1:c.7345C>G	NP_001341831.1:p.Pro2449Ala
NM_001354903.1:c.7315C>G	NP_001341832.1:p.Pro2439Ala
NM_001354904.1:c.7240C>G	NP_001341833.1:p.Pro2414Ala
NM_001354905.1:c.7138C>G	NP_001341834.1:p.Pro2380Ala
NM_001354906.1:c.6769C>G	NP_001341835.1:p.Pro2257Ala
NM_000038.6:c.7618C>G MANE Select	NP_000029.2:p.Pro2540Ala
NM_001127510.3:c.7618C>G	NP_001120982.1:p.Pro2540Ala
NM_001127511.3:c.7564C>G	NP_001120983.2:p.Pro2522Ala
NM_001354895.2:c.7618C>G	NP_001341824.1:p.Pro2540Ala
NM_001354896.2:c.7672C>G	NP_001341825.1:p.Pro2558Ala
NM_001354897.2:c.7648C>G	NP_001341826.1:p.Pro2550Ala
NM_001354898.2:c.7543C>G	NP_001341827.1:p.Pro2515Ala
NM_001354899.2:c.7534C>G	NP_001341828.1:p.Pro2512Ala
NM_001354900.2:c.7495C>G	NP_001341829.1:p.Pro2499Ala
NM_001354901.2:c.7441C>G	NP_001341830.1:p.Pro2481Ala
NM_001354902.2:c.7345C>G	NP_001341831.1:p.Pro2449Ala
NM_001354903.2:c.7315C>G	NP_001341832.1:p.Pro2439Ala
NM_001354904.2:c.7240C>G	NP_001341833.1:p.Pro2414Ala
NM_001354905.2:c.7138C>G	NP_001341834.1:p.Pro2380Ala
NM_001354906.2:c.6769C>G	NP_001341835.1:p.Pro2257Ala