Canonical Allele Identifier: CA16024311

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112157653T>G (hg19) ; chr5:g.112821956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821956T>G , CM000667.2:g.112821956T>G	GRCh38
NC_000005.9:g.112157653T>G , CM000667.1:g.112157653T>G	GRCh37
NC_000005.8:g.112185552T>G	NCBI36
NG_008481.4:g.134436T>G , LRG_130:g.134436T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1373T>G	ENSP00000484935.2:p.Phe458Cys
ENST00000504915.3:c.1373T>G	ENSP00000473355.2:p.Phe458Cys
ENST00000505084.2:n.1429T>G
ENST00000505350.2:c.*1379T>G	ENSP00000481752.1:n.*1379T>G
ENST00000507379.6:c.1319T>G	ENSP00000423224.2:p.Phe440Cys
ENST00000509732.6:c.1373T>G	ENSP00000426541.2:p.Phe458Cys
ENST00000512211.7:c.1373T>G	ENSP00000423828.3:p.Phe458Cys
ENST00000257430.9:c.1373T>G MANE Select	ENSP00000257430.4:p.Phe458Cys
ENST00000257430.8:c.1373T>G	ENSP00000257430.4:p.Phe458Cys
ENST00000502371.2:c.61T>G
ENST00000504915.2:c.8T>G	ENSP00000473355.1:p.Phe3Cys
ENST00000507379.5:c.1319T>G	ENSP00000423224.1:p.Phe440Cys
ENST00000508376.6:c.1373T>G	ENSP00000427089.2:p.Phe458Cys
ENST00000508624.5:c.*695T>G	ENSP00000424265.1:n.*695T>G
ENST00000512211.6:c.1373T>G	ENSP00000423828.2:p.Phe458Cys
NM_000038.5:c.1373T>G	NP_000029.2:p.Phe458Cys
NM_001127510.2:c.1373T>G	NP_001120982.1:p.Phe458Cys
NM_001127511.2:c.1319T>G	NP_001120983.2:p.Phe440Cys
NM_001354895.1:c.1373T>G	NP_001341824.1:p.Phe458Cys
NM_001354896.1:c.1373T>G	NP_001341825.1:p.Phe458Cys
NM_001354897.1:c.1403T>G	NP_001341826.1:p.Phe468Cys
NM_001354898.1:c.1298T>G	NP_001341827.1:p.Phe433Cys
NM_001354899.1:c.1289T>G	NP_001341828.1:p.Phe430Cys
NM_001354900.1:c.1196T>G	NP_001341829.1:p.Phe399Cys
NM_001354901.1:c.1196T>G	NP_001341830.1:p.Phe399Cys
NM_001354902.1:c.1100T>G	NP_001341831.1:p.Phe367Cys
NM_001354903.1:c.1070T>G	NP_001341832.1:p.Phe357Cys
NM_001354904.1:c.995T>G	NP_001341833.1:p.Phe332Cys
NM_001354905.1:c.893T>G	NP_001341834.1:p.Phe298Cys
NM_001354906.1:c.524T>G	NP_001341835.1:p.Phe175Cys
NM_000038.6:c.1373T>G MANE Select	NP_000029.2:p.Phe458Cys
NM_001127510.3:c.1373T>G	NP_001120982.1:p.Phe458Cys
NM_001127511.3:c.1319T>G	NP_001120983.2:p.Phe440Cys
NM_001354895.2:c.1373T>G	NP_001341824.1:p.Phe458Cys
NM_001354896.2:c.1373T>G	NP_001341825.1:p.Phe458Cys
NM_001354897.2:c.1403T>G	NP_001341826.1:p.Phe468Cys
NM_001354898.2:c.1298T>G	NP_001341827.1:p.Phe433Cys
NM_001354899.2:c.1289T>G	NP_001341828.1:p.Phe430Cys
NM_001354900.2:c.1196T>G	NP_001341829.1:p.Phe399Cys
NM_001354901.2:c.1196T>G	NP_001341830.1:p.Phe399Cys
NM_001354902.2:c.1100T>G	NP_001341831.1:p.Phe367Cys
NM_001354903.2:c.1070T>G	NP_001341832.1:p.Phe357Cys
NM_001354904.2:c.995T>G	NP_001341833.1:p.Phe332Cys
NM_001354905.2:c.893T>G	NP_001341834.1:p.Phe298Cys
NM_001354906.2:c.524T>G	NP_001341835.1:p.Phe175Cys