Canonical Allele Identifier: CA16027877

Gene: APC

Linked Data

• ClinVar Variation Id: 469783
• ClinVar RCV Id: RCV003742630
• dbSNP Id: rs864622629
• MyVariant Identifiers: chr5:g.112174282T>G (hg19) ; chr5:g.112838585T>G (hg38)
• PubMed: PMID:11247896 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838585T>G , CM000667.2:g.112838585T>G	GRCh38
NC_000005.9:g.112174282T>G , CM000667.1:g.112174282T>G	GRCh37
NC_000005.8:g.112202181T>G	NCBI36
NG_008481.4:g.151065T>G , LRG_130:g.151065T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2656T>G	ENSP00000484935.2:n.2656T>G
ENST00000504915.3:c.3045T>G	ENSP00000473355.2:p.Tyr1015Ter
ENST00000505350.2:c.*2997T>G	ENSP00000481752.1:n.*2997T>G
ENST00000507379.6:c.2937T>G	ENSP00000423224.2:p.Tyr979Ter
ENST00000509732.6:c.2991T>G	ENSP00000426541.2:p.Tyr997Ter
ENST00000512211.7:c.2991T>G	ENSP00000423828.3:p.Tyr997Ter
ENST00000257430.9:c.2991T>G MANE Select	ENSP00000257430.4:p.Tyr997Ter
ENST00000257430.8:c.2991T>G	ENSP00000257430.4:p.Tyr997Ter
ENST00000502371.2:c.1344T>G
ENST00000507379.5:c.2937T>G	ENSP00000423224.1:p.Tyr979Ter
ENST00000508376.6:c.2991T>G	ENSP00000427089.2:p.Tyr997Ter
ENST00000508624.5:c.*2313T>G	ENSP00000424265.1:n.*2313T>G
ENST00000512211.6:c.2991T>G	ENSP00000423828.2:p.Tyr997Ter
ENST00000520401.1:c.230+9613T>G
NM_000038.5:c.2991T>G	NP_000029.2:p.Tyr997Ter
NM_001127510.2:c.2991T>G	NP_001120982.1:p.Tyr997Ter
NM_001127511.2:c.2937T>G	NP_001120983.2:p.Tyr979Ter
NM_001354895.1:c.2991T>G	NP_001341824.1:p.Tyr997Ter
NM_001354896.1:c.3045T>G	NP_001341825.1:p.Tyr1015Ter
NM_001354897.1:c.3021T>G	NP_001341826.1:p.Tyr1007Ter
NM_001354898.1:c.2916T>G	NP_001341827.1:p.Tyr972Ter
NM_001354899.1:c.2907T>G	NP_001341828.1:p.Tyr969Ter
NM_001354900.1:c.2868T>G	NP_001341829.1:p.Tyr956Ter
NM_001354901.1:c.2814T>G	NP_001341830.1:p.Tyr938Ter
NM_001354902.1:c.2718T>G	NP_001341831.1:p.Tyr906Ter
NM_001354903.1:c.2688T>G	NP_001341832.1:p.Tyr896Ter
NM_001354904.1:c.2613T>G	NP_001341833.1:p.Tyr871Ter
NM_001354905.1:c.2511T>G	NP_001341834.1:p.Tyr837Ter
NM_001354906.1:c.2142T>G	NP_001341835.1:p.Tyr714Ter
NM_000038.6:c.2991T>G MANE Select	NP_000029.2:p.Tyr997Ter
NM_001127510.3:c.2991T>G	NP_001120982.1:p.Tyr997Ter
NM_001127511.3:c.2937T>G	NP_001120983.2:p.Tyr979Ter
NM_001354895.2:c.2991T>G	NP_001341824.1:p.Tyr997Ter
NM_001354896.2:c.3045T>G	NP_001341825.1:p.Tyr1015Ter
NM_001354897.2:c.3021T>G	NP_001341826.1:p.Tyr1007Ter
NM_001354898.2:c.2916T>G	NP_001341827.1:p.Tyr972Ter
NM_001354899.2:c.2907T>G	NP_001341828.1:p.Tyr969Ter
NM_001354900.2:c.2868T>G	NP_001341829.1:p.Tyr956Ter
NM_001354901.2:c.2814T>G	NP_001341830.1:p.Tyr938Ter
NM_001354902.2:c.2718T>G	NP_001341831.1:p.Tyr906Ter
NM_001354903.2:c.2688T>G	NP_001341832.1:p.Tyr896Ter
NM_001354904.2:c.2613T>G	NP_001341833.1:p.Tyr871Ter
NM_001354905.2:c.2511T>G	NP_001341834.1:p.Tyr837Ter
NM_001354906.2:c.2142T>G	NP_001341835.1:p.Tyr714Ter