Canonical Allele Identifier: CA16032748

Gene: APC

Linked Data

• ClinVar Variation Id: 801036
• ClinVar RCV Id: RCV000985308
• dbSNP Id: rs1580657588
• MyVariant Identifiers: chr5:g.112176513T>G (hg19) ; chr5:g.112840816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840816T>G , CM000667.2:g.112840816T>G	GRCh38
NC_000005.9:g.112176513T>G , CM000667.1:g.112176513T>G	GRCh37
NC_000005.8:g.112204412T>G	NCBI36
NG_008481.4:g.153296T>G , LRG_130:g.153296T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5276T>G	ENSP00000473355.2:p.Phe1759Cys
ENST00000505350.2:c.*5228T>G	ENSP00000481752.1:n.*5228T>G
ENST00000507379.6:c.5168T>G	ENSP00000423224.2:p.Phe1723Cys
ENST00000509732.6:c.5222T>G	ENSP00000426541.2:p.Phe1741Cys
ENST00000512211.7:c.5222T>G	ENSP00000423828.3:p.Phe1741Cys
ENST00000257430.9:c.5222T>G MANE Select	ENSP00000257430.4:p.Phe1741Cys
ENST00000257430.8:c.5222T>G	ENSP00000257430.4:p.Phe1741Cys
ENST00000508376.6:c.5222T>G	ENSP00000427089.2:p.Phe1741Cys
ENST00000508624.5:c.*4544T>G	ENSP00000424265.1:n.*4544T>G
ENST00000520401.1:c.230+11844T>G
NM_000038.5:c.5222T>G	NP_000029.2:p.Phe1741Cys
NM_001127510.2:c.5222T>G	NP_001120982.1:p.Phe1741Cys
NM_001127511.2:c.5168T>G	NP_001120983.2:p.Phe1723Cys
NM_001354895.1:c.5222T>G	NP_001341824.1:p.Phe1741Cys
NM_001354896.1:c.5276T>G	NP_001341825.1:p.Phe1759Cys
NM_001354897.1:c.5252T>G	NP_001341826.1:p.Phe1751Cys
NM_001354898.1:c.5147T>G	NP_001341827.1:p.Phe1716Cys
NM_001354899.1:c.5138T>G	NP_001341828.1:p.Phe1713Cys
NM_001354900.1:c.5099T>G	NP_001341829.1:p.Phe1700Cys
NM_001354901.1:c.5045T>G	NP_001341830.1:p.Phe1682Cys
NM_001354902.1:c.4949T>G	NP_001341831.1:p.Phe1650Cys
NM_001354903.1:c.4919T>G	NP_001341832.1:p.Phe1640Cys
NM_001354904.1:c.4844T>G	NP_001341833.1:p.Phe1615Cys
NM_001354905.1:c.4742T>G	NP_001341834.1:p.Phe1581Cys
NM_001354906.1:c.4373T>G	NP_001341835.1:p.Phe1458Cys
NM_000038.6:c.5222T>G MANE Select	NP_000029.2:p.Phe1741Cys
NM_001127510.3:c.5222T>G	NP_001120982.1:p.Phe1741Cys
NM_001127511.3:c.5168T>G	NP_001120983.2:p.Phe1723Cys
NM_001354895.2:c.5222T>G	NP_001341824.1:p.Phe1741Cys
NM_001354896.2:c.5276T>G	NP_001341825.1:p.Phe1759Cys
NM_001354897.2:c.5252T>G	NP_001341826.1:p.Phe1751Cys
NM_001354898.2:c.5147T>G	NP_001341827.1:p.Phe1716Cys
NM_001354899.2:c.5138T>G	NP_001341828.1:p.Phe1713Cys
NM_001354900.2:c.5099T>G	NP_001341829.1:p.Phe1700Cys
NM_001354901.2:c.5045T>G	NP_001341830.1:p.Phe1682Cys
NM_001354902.2:c.4949T>G	NP_001341831.1:p.Phe1650Cys
NM_001354903.2:c.4919T>G	NP_001341832.1:p.Phe1640Cys
NM_001354904.2:c.4844T>G	NP_001341833.1:p.Phe1615Cys
NM_001354905.2:c.4742T>G	NP_001341834.1:p.Phe1581Cys
NM_001354906.2:c.4373T>G	NP_001341835.1:p.Phe1458Cys