Canonical Allele Identifier: CA279831

Gene: APC

Linked Data

• ClinVar Variation Id: 217927
• ClinVar RCV Id: RCV000202308 ; RCV000570454 ; RCV002519584 ; RCV003534477
• dbSNP Id: rs863225313
• MyVariant Identifiers: chr5:g.112162804G>T (hg19) ; chr5:g.112827107G>T (hg38)
• PubMed: PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827107G>T , CM000667.2:g.112827107G>T	GRCh38
NC_000005.9:g.112162804G>T , CM000667.1:g.112162804G>T	GRCh37
NC_000005.8:g.112190703G>T	NCBI36
NG_008481.4:g.139587G>T , LRG_130:g.139587G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1408+5116G>T	ENSP00000484935.2:n.1408+5116G>T
ENST00000504915.3:c.1463-1G>T	ENSP00000473355.2:n.1463-1G>T
ENST00000505084.2:n.1465-1G>T
ENST00000505350.2:c.*1415-1G>T	ENSP00000481752.1:n.*1415-1G>T
ENST00000507379.6:c.1355-1G>T	ENSP00000423224.2:n.1355-1G>T
ENST00000509732.6:c.1409-1G>T	ENSP00000426541.2:n.1409-1G>T
ENST00000512211.7:c.1409-1G>T	ENSP00000423828.3:n.1409-1G>T
ENST00000257430.9:c.1409-1G>T MANE Select	ENSP00000257430.4:n.1409-1G>T
ENST00000257430.8:c.1409-1G>T	ENSP00000257430.4:n.1409-1G>T
ENST00000502371.2:c.96+5116G>T
ENST00000504915.2:c.98-1G>T	ENSP00000473355.1:n.98-1G>T
ENST00000507379.5:c.1355-1G>T	ENSP00000423224.1:n.1355-1G>T
ENST00000508376.6:c.1409-1G>T	ENSP00000427089.2:n.1409-1G>T
ENST00000508624.5:c.*731-1G>T	ENSP00000424265.1:n.*731-1G>T
ENST00000512211.6:c.1409-1G>T	ENSP00000423828.2:n.1409-1G>T
NM_000038.5:c.1409-1G>T	NP_000029.2:n.1409-1G>T
NM_001127510.2:c.1409-1G>T	NP_001120982.1:n.1409-1G>T
NM_001127511.2:c.1355-1G>T	NP_001120983.2:n.1355-1G>T
NM_001354895.1:c.1409-1G>T	NP_001341824.1:n.1409-1G>T
NM_001354896.1:c.1463-1G>T	NP_001341825.1:n.1463-1G>T
NM_001354897.1:c.1439-1G>T	NP_001341826.1:n.1439-1G>T
NM_001354898.1:c.1334-1G>T	NP_001341827.1:n.1334-1G>T
NM_001354899.1:c.1325-1G>T	NP_001341828.1:n.1325-1G>T
NM_001354900.1:c.1286-1G>T	NP_001341829.1:n.1286-1G>T
NM_001354901.1:c.1232-1G>T	NP_001341830.1:n.1232-1G>T
NM_001354902.1:c.1136-1G>T	NP_001341831.1:n.1136-1G>T
NM_001354903.1:c.1106-1G>T	NP_001341832.1:n.1106-1G>T
NM_001354904.1:c.1031-1G>T	NP_001341833.1:n.1031-1G>T
NM_001354905.1:c.929-1G>T	NP_001341834.1:n.929-1G>T
NM_001354906.1:c.560-1G>T	NP_001341835.1:n.560-1G>T
NM_000038.6:c.1409-1G>T MANE Select	NP_000029.2:n.1409-1G>T
NM_001127510.3:c.1409-1G>T	NP_001120982.1:n.1409-1G>T
NM_001127511.3:c.1355-1G>T	NP_001120983.2:n.1355-1G>T
NM_001354895.2:c.1409-1G>T	NP_001341824.1:n.1409-1G>T
NM_001354896.2:c.1463-1G>T	NP_001341825.1:n.1463-1G>T
NM_001354897.2:c.1439-1G>T	NP_001341826.1:n.1439-1G>T
NM_001354898.2:c.1334-1G>T	NP_001341827.1:n.1334-1G>T
NM_001354899.2:c.1325-1G>T	NP_001341828.1:n.1325-1G>T
NM_001354900.2:c.1286-1G>T	NP_001341829.1:n.1286-1G>T
NM_001354901.2:c.1232-1G>T	NP_001341830.1:n.1232-1G>T
NM_001354902.2:c.1136-1G>T	NP_001341831.1:n.1136-1G>T
NM_001354903.2:c.1106-1G>T	NP_001341832.1:n.1106-1G>T
NM_001354904.2:c.1031-1G>T	NP_001341833.1:n.1031-1G>T
NM_001354905.2:c.929-1G>T	NP_001341834.1:n.929-1G>T
NM_001354906.2:c.560-1G>T	NP_001341835.1:n.560-1G>T