Canonical Allele Identifier: CA008851

Gene: APC

Linked Data

• ClinVar Variation Id: 92346
• ClinVar RCV Id: RCV000077990 ; RCV000570934 ; RCV000501536 ; RCV003415842 ; RCV003743560 ; RCV003335095
• dbSNP Id: rs398123121
• COSMIC: COSM18859
• MyVariant Identifiers: chr5:g.112175273C>T (hg19) ; chr5:g.112839576C>T (hg38)
• PubMed: PMID:8395941 ; PMID:9101302 ; PMID:14961559 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839576C>T , CM000667.2:g.112839576C>T	GRCh38
NC_000005.9:g.112175273C>T , CM000667.1:g.112175273C>T	GRCh37
NC_000005.8:g.112203172C>T	NCBI36
NG_008481.4:g.152056C>T , LRG_130:g.152056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3647C>T	ENSP00000484935.2:n.3647C>T
ENST00000504915.3:c.4036C>T	ENSP00000473355.2:p.Gln1346Ter
ENST00000505350.2:c.*3988C>T	ENSP00000481752.1:n.*3988C>T
ENST00000507379.6:c.3928C>T	ENSP00000423224.2:p.Gln1310Ter
ENST00000509732.6:c.3982C>T	ENSP00000426541.2:p.Gln1328Ter
ENST00000512211.7:c.3982C>T	ENSP00000423828.3:p.Gln1328Ter
ENST00000257430.9:c.3982C>T MANE Select	ENSP00000257430.4:p.Gln1328Ter
ENST00000257430.8:c.3982C>T	ENSP00000257430.4:p.Gln1328Ter
ENST00000502371.2:c.2335C>T
ENST00000508376.6:c.3982C>T	ENSP00000427089.2:p.Gln1328Ter
ENST00000508624.5:c.*3304C>T	ENSP00000424265.1:n.*3304C>T
ENST00000520401.1:c.230+10604C>T
NM_000038.5:c.3982C>T	NP_000029.2:p.Gln1328Ter
NM_001127510.2:c.3982C>T	NP_001120982.1:p.Gln1328Ter
NM_001127511.2:c.3928C>T	NP_001120983.2:p.Gln1310Ter
NM_001354895.1:c.3982C>T	NP_001341824.1:p.Gln1328Ter
NM_001354896.1:c.4036C>T	NP_001341825.1:p.Gln1346Ter
NM_001354897.1:c.4012C>T	NP_001341826.1:p.Gln1338Ter
NM_001354898.1:c.3907C>T	NP_001341827.1:p.Gln1303Ter
NM_001354899.1:c.3898C>T	NP_001341828.1:p.Gln1300Ter
NM_001354900.1:c.3859C>T	NP_001341829.1:p.Gln1287Ter
NM_001354901.1:c.3805C>T	NP_001341830.1:p.Gln1269Ter
NM_001354902.1:c.3709C>T	NP_001341831.1:p.Gln1237Ter
NM_001354903.1:c.3679C>T	NP_001341832.1:p.Gln1227Ter
NM_001354904.1:c.3604C>T	NP_001341833.1:p.Gln1202Ter
NM_001354905.1:c.3502C>T	NP_001341834.1:p.Gln1168Ter
NM_001354906.1:c.3133C>T	NP_001341835.1:p.Gln1045Ter
NM_000038.6:c.3982C>T MANE Select	NP_000029.2:p.Gln1328Ter
NM_001127510.3:c.3982C>T	NP_001120982.1:p.Gln1328Ter
NM_001127511.3:c.3928C>T	NP_001120983.2:p.Gln1310Ter
NM_001354895.2:c.3982C>T	NP_001341824.1:p.Gln1328Ter
NM_001354896.2:c.4036C>T	NP_001341825.1:p.Gln1346Ter
NM_001354897.2:c.4012C>T	NP_001341826.1:p.Gln1338Ter
NM_001354898.2:c.3907C>T	NP_001341827.1:p.Gln1303Ter
NM_001354899.2:c.3898C>T	NP_001341828.1:p.Gln1300Ter
NM_001354900.2:c.3859C>T	NP_001341829.1:p.Gln1287Ter
NM_001354901.2:c.3805C>T	NP_001341830.1:p.Gln1269Ter
NM_001354902.2:c.3709C>T	NP_001341831.1:p.Gln1237Ter
NM_001354903.2:c.3679C>T	NP_001341832.1:p.Gln1227Ter
NM_001354904.2:c.3604C>T	NP_001341833.1:p.Gln1202Ter
NM_001354905.2:c.3502C>T	NP_001341834.1:p.Gln1168Ter
NM_001354906.2:c.3133C>T	NP_001341835.1:p.Gln1045Ter