Canonical Allele Identifier: CA007187

Gene: APC

Linked Data

• ClinVar Variation Id: 832
• ClinVar RCV Id: RCV000000875 ; RCV001310095
• dbSNP Id: rs137854582
• MyVariant Identifiers: chr5:g.112173384T>A (hg19) ; chr5:g.112837687T>A (hg38)
• PubMed: PMID:9916927

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837687T>A , CM000667.2:g.112837687T>A	GRCh38
NC_000005.9:g.112173384T>A , CM000667.1:g.112173384T>A	GRCh37
NC_000005.8:g.112201283T>A	NCBI36
NG_008481.4:g.150167T>A , LRG_130:g.150167T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1758T>A	ENSP00000484935.2:n.1758T>A
ENST00000504915.3:c.2147T>A	ENSP00000473355.2:p.Leu716Ter
ENST00000505350.2:c.*2099T>A	ENSP00000481752.1:n.*2099T>A
ENST00000507379.6:c.2039T>A	ENSP00000423224.2:p.Leu680Ter
ENST00000509732.6:c.2093T>A	ENSP00000426541.2:p.Leu698Ter
ENST00000512211.7:c.2093T>A	ENSP00000423828.3:p.Leu698Ter
ENST00000257430.9:c.2093T>A MANE Select	ENSP00000257430.4:p.Leu698Ter
ENST00000257430.8:c.2093T>A	ENSP00000257430.4:p.Leu698Ter
ENST00000502371.2:c.446T>A
ENST00000504915.2:c.782T>A	ENSP00000473355.1:p.Leu261Ter
ENST00000507379.5:c.2039T>A	ENSP00000423224.1:p.Leu680Ter
ENST00000508376.6:c.2093T>A	ENSP00000427089.2:p.Leu698Ter
ENST00000508624.5:c.*1415T>A	ENSP00000424265.1:n.*1415T>A
ENST00000512211.6:c.2093T>A	ENSP00000423828.2:p.Leu698Ter
ENST00000520401.1:c.230+8715T>A
NM_000038.5:c.2093T>A	NP_000029.2:p.Leu698Ter
NM_001127510.2:c.2093T>A	NP_001120982.1:p.Leu698Ter
NM_001127511.2:c.2039T>A	NP_001120983.2:p.Leu680Ter
NM_001354895.1:c.2093T>A	NP_001341824.1:p.Leu698Ter
NM_001354896.1:c.2147T>A	NP_001341825.1:p.Leu716Ter
NM_001354897.1:c.2123T>A	NP_001341826.1:p.Leu708Ter
NM_001354898.1:c.2018T>A	NP_001341827.1:p.Leu673Ter
NM_001354899.1:c.2009T>A	NP_001341828.1:p.Leu670Ter
NM_001354900.1:c.1970T>A	NP_001341829.1:p.Leu657Ter
NM_001354901.1:c.1916T>A	NP_001341830.1:p.Leu639Ter
NM_001354902.1:c.1820T>A	NP_001341831.1:p.Leu607Ter
NM_001354903.1:c.1790T>A	NP_001341832.1:p.Leu597Ter
NM_001354904.1:c.1715T>A	NP_001341833.1:p.Leu572Ter
NM_001354905.1:c.1613T>A	NP_001341834.1:p.Leu538Ter
NM_001354906.1:c.1244T>A	NP_001341835.1:p.Leu415Ter
NM_000038.6:c.2093T>A MANE Select	NP_000029.2:p.Leu698Ter
NM_001127510.3:c.2093T>A	NP_001120982.1:p.Leu698Ter
NM_001127511.3:c.2039T>A	NP_001120983.2:p.Leu680Ter
NM_001354895.2:c.2093T>A	NP_001341824.1:p.Leu698Ter
NM_001354896.2:c.2147T>A	NP_001341825.1:p.Leu716Ter
NM_001354897.2:c.2123T>A	NP_001341826.1:p.Leu708Ter
NM_001354898.2:c.2018T>A	NP_001341827.1:p.Leu673Ter
NM_001354899.2:c.2009T>A	NP_001341828.1:p.Leu670Ter
NM_001354900.2:c.1970T>A	NP_001341829.1:p.Leu657Ter
NM_001354901.2:c.1916T>A	NP_001341830.1:p.Leu639Ter
NM_001354902.2:c.1820T>A	NP_001341831.1:p.Leu607Ter
NM_001354903.2:c.1790T>A	NP_001341832.1:p.Leu597Ter
NM_001354904.2:c.1715T>A	NP_001341833.1:p.Leu572Ter
NM_001354905.2:c.1613T>A	NP_001341834.1:p.Leu538Ter
NM_001354906.2:c.1244T>A	NP_001341835.1:p.Leu415Ter