Canonical Allele Identifier: CA10578351

Gene: APC

Linked Data

• ClinVar Variation Id: 230610
• ClinVar RCV Id: RCV000216288 ; RCV000508021 ; RCV003335247 ; RCV002229934
• dbSNP Id: rs876658667
• COSMIC: COSM1432243
• MyVariant Identifiers: chr5:g.112174437G>A (hg19) ; chr5:g.112838740G>A (hg38)
• PubMed: PMID:12010888 ; PMID:20223039 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838740G>A , CM000667.2:g.112838740G>A	GRCh38
NC_000005.9:g.112174437G>A , CM000667.1:g.112174437G>A	GRCh37
NC_000005.8:g.112202336G>A	NCBI36
NG_008481.4:g.151220G>A , LRG_130:g.151220G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2811G>A	ENSP00000484935.2:n.2811G>A
ENST00000504915.3:c.3200G>A	ENSP00000473355.2:p.Trp1067Ter
ENST00000505350.2:c.*3152G>A	ENSP00000481752.1:n.*3152G>A
ENST00000507379.6:c.3092G>A	ENSP00000423224.2:p.Trp1031Ter
ENST00000509732.6:c.3146G>A	ENSP00000426541.2:p.Trp1049Ter
ENST00000512211.7:c.3146G>A	ENSP00000423828.3:p.Trp1049Ter
ENST00000257430.9:c.3146G>A MANE Select	ENSP00000257430.4:p.Trp1049Ter
ENST00000257430.8:c.3146G>A	ENSP00000257430.4:p.Trp1049Ter
ENST00000502371.2:c.1499G>A
ENST00000507379.5:c.3092G>A	ENSP00000423224.1:p.Trp1031Ter
ENST00000508376.6:c.3146G>A	ENSP00000427089.2:p.Trp1049Ter
ENST00000508624.5:c.*2468G>A	ENSP00000424265.1:n.*2468G>A
ENST00000512211.6:c.3146G>A	ENSP00000423828.2:p.Trp1049Ter
ENST00000520401.1:c.230+9768G>A
NM_000038.5:c.3146G>A	NP_000029.2:p.Trp1049Ter
NM_001127510.2:c.3146G>A	NP_001120982.1:p.Trp1049Ter
NM_001127511.2:c.3092G>A	NP_001120983.2:p.Trp1031Ter
NM_001354895.1:c.3146G>A	NP_001341824.1:p.Trp1049Ter
NM_001354896.1:c.3200G>A	NP_001341825.1:p.Trp1067Ter
NM_001354897.1:c.3176G>A	NP_001341826.1:p.Trp1059Ter
NM_001354898.1:c.3071G>A	NP_001341827.1:p.Trp1024Ter
NM_001354899.1:c.3062G>A	NP_001341828.1:p.Trp1021Ter
NM_001354900.1:c.3023G>A	NP_001341829.1:p.Trp1008Ter
NM_001354901.1:c.2969G>A	NP_001341830.1:p.Trp990Ter
NM_001354902.1:c.2873G>A	NP_001341831.1:p.Trp958Ter
NM_001354903.1:c.2843G>A	NP_001341832.1:p.Trp948Ter
NM_001354904.1:c.2768G>A	NP_001341833.1:p.Trp923Ter
NM_001354905.1:c.2666G>A	NP_001341834.1:p.Trp889Ter
NM_001354906.1:c.2297G>A	NP_001341835.1:p.Trp766Ter
NM_000038.6:c.3146G>A MANE Select	NP_000029.2:p.Trp1049Ter
NM_001127510.3:c.3146G>A	NP_001120982.1:p.Trp1049Ter
NM_001127511.3:c.3092G>A	NP_001120983.2:p.Trp1031Ter
NM_001354895.2:c.3146G>A	NP_001341824.1:p.Trp1049Ter
NM_001354896.2:c.3200G>A	NP_001341825.1:p.Trp1067Ter
NM_001354897.2:c.3176G>A	NP_001341826.1:p.Trp1059Ter
NM_001354898.2:c.3071G>A	NP_001341827.1:p.Trp1024Ter
NM_001354899.2:c.3062G>A	NP_001341828.1:p.Trp1021Ter
NM_001354900.2:c.3023G>A	NP_001341829.1:p.Trp1008Ter
NM_001354901.2:c.2969G>A	NP_001341830.1:p.Trp990Ter
NM_001354902.2:c.2873G>A	NP_001341831.1:p.Trp958Ter
NM_001354903.2:c.2843G>A	NP_001341832.1:p.Trp948Ter
NM_001354904.2:c.2768G>A	NP_001341833.1:p.Trp923Ter
NM_001354905.2:c.2666G>A	NP_001341834.1:p.Trp889Ter
NM_001354906.2:c.2297G>A	NP_001341835.1:p.Trp766Ter