Canonical Allele Identifier: CA16032257

Gene: APC

Linked Data

• dbSNP Id: rs2149929313
• COSMIC: COSM5401927
• MyVariant Identifiers: chr5:g.112176282C>T (hg19) ; chr5:g.112840585C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840585C>T , CM000667.2:g.112840585C>T	GRCh38
NC_000005.9:g.112176282C>T , CM000667.1:g.112176282C>T	GRCh37
NC_000005.8:g.112204181C>T	NCBI36
NG_008481.4:g.153065C>T , LRG_130:g.153065C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5045C>T	ENSP00000473355.2:p.Ser1682Phe
ENST00000505350.2:c.*4997C>T	ENSP00000481752.1:n.*4997C>T
ENST00000507379.6:c.4937C>T	ENSP00000423224.2:p.Ser1646Phe
ENST00000509732.6:c.4991C>T	ENSP00000426541.2:p.Ser1664Phe
ENST00000512211.7:c.4991C>T	ENSP00000423828.3:p.Ser1664Phe
ENST00000257430.9:c.4991C>T MANE Select	ENSP00000257430.4:p.Ser1664Phe
ENST00000257430.8:c.4991C>T	ENSP00000257430.4:p.Ser1664Phe
ENST00000508376.6:c.4991C>T	ENSP00000427089.2:p.Ser1664Phe
ENST00000508624.5:c.*4313C>T	ENSP00000424265.1:n.*4313C>T
ENST00000520401.1:c.230+11613C>T
NM_000038.5:c.4991C>T	NP_000029.2:p.Ser1664Phe
NM_001127510.2:c.4991C>T	NP_001120982.1:p.Ser1664Phe
NM_001127511.2:c.4937C>T	NP_001120983.2:p.Ser1646Phe
NM_001354895.1:c.4991C>T	NP_001341824.1:p.Ser1664Phe
NM_001354896.1:c.5045C>T	NP_001341825.1:p.Ser1682Phe
NM_001354897.1:c.5021C>T	NP_001341826.1:p.Ser1674Phe
NM_001354898.1:c.4916C>T	NP_001341827.1:p.Ser1639Phe
NM_001354899.1:c.4907C>T	NP_001341828.1:p.Ser1636Phe
NM_001354900.1:c.4868C>T	NP_001341829.1:p.Ser1623Phe
NM_001354901.1:c.4814C>T	NP_001341830.1:p.Ser1605Phe
NM_001354902.1:c.4718C>T	NP_001341831.1:p.Ser1573Phe
NM_001354903.1:c.4688C>T	NP_001341832.1:p.Ser1563Phe
NM_001354904.1:c.4613C>T	NP_001341833.1:p.Ser1538Phe
NM_001354905.1:c.4511C>T	NP_001341834.1:p.Ser1504Phe
NM_001354906.1:c.4142C>T	NP_001341835.1:p.Ser1381Phe
NM_000038.6:c.4991C>T MANE Select	NP_000029.2:p.Ser1664Phe
NM_001127510.3:c.4991C>T	NP_001120982.1:p.Ser1664Phe
NM_001127511.3:c.4937C>T	NP_001120983.2:p.Ser1646Phe
NM_001354895.2:c.4991C>T	NP_001341824.1:p.Ser1664Phe
NM_001354896.2:c.5045C>T	NP_001341825.1:p.Ser1682Phe
NM_001354897.2:c.5021C>T	NP_001341826.1:p.Ser1674Phe
NM_001354898.2:c.4916C>T	NP_001341827.1:p.Ser1639Phe
NM_001354899.2:c.4907C>T	NP_001341828.1:p.Ser1636Phe
NM_001354900.2:c.4868C>T	NP_001341829.1:p.Ser1623Phe
NM_001354901.2:c.4814C>T	NP_001341830.1:p.Ser1605Phe
NM_001354902.2:c.4718C>T	NP_001341831.1:p.Ser1573Phe
NM_001354903.2:c.4688C>T	NP_001341832.1:p.Ser1563Phe
NM_001354904.2:c.4613C>T	NP_001341833.1:p.Ser1538Phe
NM_001354905.2:c.4511C>T	NP_001341834.1:p.Ser1504Phe
NM_001354906.2:c.4142C>T	NP_001341835.1:p.Ser1381Phe