Canonical Allele Identifier: CA005243

Gene: APC

Linked Data

• ClinVar Variation Id: 796
• ClinVar RCV Id: RCV000000832 ; RCV001284231 ; RCV001851515 ; RCV002390083
• dbSNP Id: rs387906230
• MyVariant Identifiers: chr5:g.112162896T>G (hg19) ; chr5:g.112827199T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827199T>G , CM000667.2:g.112827199T>G	GRCh38
NC_000005.9:g.112162896T>G , CM000667.1:g.112162896T>G	GRCh37
NC_000005.8:g.112190795T>G	NCBI36
NG_008481.4:g.139679T>G , LRG_130:g.139679T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1408+5208T>G	ENSP00000484935.2:n.1408+5208T>G
ENST00000504915.3:c.1554T>G	ENSP00000473355.2:p.Tyr518Ter
ENST00000505084.2:n.1556T>G
ENST00000505350.2:c.*1506T>G	ENSP00000481752.1:n.*1506T>G
ENST00000507379.6:c.1446T>G	ENSP00000423224.2:p.Tyr482Ter
ENST00000509732.6:c.1500T>G	ENSP00000426541.2:p.Tyr500Ter
ENST00000512211.7:c.1500T>G	ENSP00000423828.3:p.Tyr500Ter
ENST00000257430.9:c.1500T>G MANE Select	ENSP00000257430.4:p.Tyr500Ter
ENST00000257430.8:c.1500T>G	ENSP00000257430.4:p.Tyr500Ter
ENST00000502371.2:c.96+5208T>G
ENST00000504915.2:c.189T>G	ENSP00000473355.1:p.Tyr63Ter
ENST00000507379.5:c.1446T>G	ENSP00000423224.1:p.Tyr482Ter
ENST00000508376.6:c.1500T>G	ENSP00000427089.2:p.Tyr500Ter
ENST00000508624.5:c.*822T>G	ENSP00000424265.1:n.*822T>G
ENST00000512211.6:c.1500T>G	ENSP00000423828.2:p.Tyr500Ter
NM_000038.5:c.1500T>G	NP_000029.2:p.Tyr500Ter
NM_001127510.2:c.1500T>G	NP_001120982.1:p.Tyr500Ter
NM_001127511.2:c.1446T>G	NP_001120983.2:p.Tyr482Ter
NM_001354895.1:c.1500T>G	NP_001341824.1:p.Tyr500Ter
NM_001354896.1:c.1554T>G	NP_001341825.1:p.Tyr518Ter
NM_001354897.1:c.1530T>G	NP_001341826.1:p.Tyr510Ter
NM_001354898.1:c.1425T>G	NP_001341827.1:p.Tyr475Ter
NM_001354899.1:c.1416T>G	NP_001341828.1:p.Tyr472Ter
NM_001354900.1:c.1377T>G	NP_001341829.1:p.Tyr459Ter
NM_001354901.1:c.1323T>G	NP_001341830.1:p.Tyr441Ter
NM_001354902.1:c.1227T>G	NP_001341831.1:p.Tyr409Ter
NM_001354903.1:c.1197T>G	NP_001341832.1:p.Tyr399Ter
NM_001354904.1:c.1122T>G	NP_001341833.1:p.Tyr374Ter
NM_001354905.1:c.1020T>G	NP_001341834.1:p.Tyr340Ter
NM_001354906.1:c.651T>G	NP_001341835.1:p.Tyr217Ter
NM_000038.6:c.1500T>G MANE Select	NP_000029.2:p.Tyr500Ter
NM_001127510.3:c.1500T>G	NP_001120982.1:p.Tyr500Ter
NM_001127511.3:c.1446T>G	NP_001120983.2:p.Tyr482Ter
NM_001354895.2:c.1500T>G	NP_001341824.1:p.Tyr500Ter
NM_001354896.2:c.1554T>G	NP_001341825.1:p.Tyr518Ter
NM_001354897.2:c.1530T>G	NP_001341826.1:p.Tyr510Ter
NM_001354898.2:c.1425T>G	NP_001341827.1:p.Tyr475Ter
NM_001354899.2:c.1416T>G	NP_001341828.1:p.Tyr472Ter
NM_001354900.2:c.1377T>G	NP_001341829.1:p.Tyr459Ter
NM_001354901.2:c.1323T>G	NP_001341830.1:p.Tyr441Ter
NM_001354902.2:c.1227T>G	NP_001341831.1:p.Tyr409Ter
NM_001354903.2:c.1197T>G	NP_001341832.1:p.Tyr399Ter
NM_001354904.2:c.1122T>G	NP_001341833.1:p.Tyr374Ter
NM_001354905.2:c.1020T>G	NP_001341834.1:p.Tyr340Ter
NM_001354906.2:c.651T>G	NP_001341835.1:p.Tyr217Ter