Canonical Allele Identifier: CA10578465

Gene: APC

Linked Data

• ClinVar Variation Id: 233392
• ClinVar RCV Id: RCV000220158 ; RCV003765436
• dbSNP Id: rs876660375
• MyVariant Identifiers: chr5:g.112179805C>G (hg19) ; chr5:g.112844108C>G (hg38)
• PubMed: PMID:10656683 ; PMID:10951583 ; PMID:21858148 ; PMID:25208568

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112844108C>G , CM000667.2:g.112844108C>G	GRCh38
NC_000005.9:g.112179805C>G , CM000667.1:g.112179805C>G	GRCh37
NC_000005.8:g.112207704C>G	NCBI36
NG_008481.4:g.156588C>G , LRG_130:g.156588C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8568C>G	ENSP00000473355.2:p.Tyr2856Ter
ENST00000505350.2:c.*8520C>G	ENSP00000481752.1:n.*8520C>G
ENST00000507379.6:c.8460C>G	ENSP00000423224.2:p.Tyr2820Ter
ENST00000509732.6:c.8514C>G	ENSP00000426541.2:p.Tyr2838Ter
ENST00000512211.7:c.8514C>G	ENSP00000423828.3:p.Tyr2838Ter
ENST00000257430.9:c.8514C>G MANE Select	ENSP00000257430.4:p.Tyr2838Ter
ENST00000257430.8:c.8514C>G	ENSP00000257430.4:p.Tyr2838Ter
ENST00000508376.6:c.8514C>G	ENSP00000427089.2:p.Tyr2838Ter
ENST00000520401.1:c.231-12541C>G
NM_000038.5:c.8514C>G	NP_000029.2:p.Tyr2838Ter
NM_001127510.2:c.8514C>G	NP_001120982.1:p.Tyr2838Ter
NM_001127511.2:c.8460C>G	NP_001120983.2:p.Tyr2820Ter
NM_001354895.1:c.8514C>G	NP_001341824.1:p.Tyr2838Ter
NM_001354896.1:c.8568C>G	NP_001341825.1:p.Tyr2856Ter
NM_001354897.1:c.8544C>G	NP_001341826.1:p.Tyr2848Ter
NM_001354898.1:c.8439C>G	NP_001341827.1:p.Tyr2813Ter
NM_001354899.1:c.8430C>G	NP_001341828.1:p.Tyr2810Ter
NM_001354900.1:c.8391C>G	NP_001341829.1:p.Tyr2797Ter
NM_001354901.1:c.8337C>G	NP_001341830.1:p.Tyr2779Ter
NM_001354902.1:c.8241C>G	NP_001341831.1:p.Tyr2747Ter
NM_001354903.1:c.8211C>G	NP_001341832.1:p.Tyr2737Ter
NM_001354904.1:c.8136C>G	NP_001341833.1:p.Tyr2712Ter
NM_001354905.1:c.8034C>G	NP_001341834.1:p.Tyr2678Ter
NM_001354906.1:c.7665C>G	NP_001341835.1:p.Tyr2555Ter
NM_000038.6:c.8514C>G MANE Select	NP_000029.2:p.Tyr2838Ter
NM_001127510.3:c.8514C>G	NP_001120982.1:p.Tyr2838Ter
NM_001127511.3:c.8460C>G	NP_001120983.2:p.Tyr2820Ter
NM_001354895.2:c.8514C>G	NP_001341824.1:p.Tyr2838Ter
NM_001354896.2:c.8568C>G	NP_001341825.1:p.Tyr2856Ter
NM_001354897.2:c.8544C>G	NP_001341826.1:p.Tyr2848Ter
NM_001354898.2:c.8439C>G	NP_001341827.1:p.Tyr2813Ter
NM_001354899.2:c.8430C>G	NP_001341828.1:p.Tyr2810Ter
NM_001354900.2:c.8391C>G	NP_001341829.1:p.Tyr2797Ter
NM_001354901.2:c.8337C>G	NP_001341830.1:p.Tyr2779Ter
NM_001354902.2:c.8241C>G	NP_001341831.1:p.Tyr2747Ter
NM_001354903.2:c.8211C>G	NP_001341832.1:p.Tyr2737Ter
NM_001354904.2:c.8136C>G	NP_001341833.1:p.Tyr2712Ter
NM_001354905.2:c.8034C>G	NP_001341834.1:p.Tyr2678Ter
NM_001354906.2:c.7665C>G	NP_001341835.1:p.Tyr2555Ter