Canonical Allele Identifier: CA16026192

Gene: APC

Linked Data

• ClinVar Variation Id: 1909279
• ClinVar RCV Id: RCV003776606
• dbSNP Id: rs1765132671
• MyVariant Identifiers: chr5:g.112173508T>G (hg19) ; chr5:g.112837811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837811T>G , CM000667.2:g.112837811T>G	GRCh38
NC_000005.9:g.112173508T>G , CM000667.1:g.112173508T>G	GRCh37
NC_000005.8:g.112201407T>G	NCBI36
NG_008481.4:g.150291T>G , LRG_130:g.150291T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1882T>G	ENSP00000484935.2:n.1882T>G
ENST00000504915.3:c.2271T>G	ENSP00000473355.2:p.Asp757Glu
ENST00000505350.2:c.*2223T>G	ENSP00000481752.1:n.*2223T>G
ENST00000507379.6:c.2163T>G	ENSP00000423224.2:p.Asp721Glu
ENST00000509732.6:c.2217T>G	ENSP00000426541.2:p.Asp739Glu
ENST00000512211.7:c.2217T>G	ENSP00000423828.3:p.Asp739Glu
ENST00000257430.9:c.2217T>G MANE Select	ENSP00000257430.4:p.Asp739Glu
ENST00000257430.8:c.2217T>G	ENSP00000257430.4:p.Asp739Glu
ENST00000502371.2:c.570T>G
ENST00000507379.5:c.2163T>G	ENSP00000423224.1:p.Asp721Glu
ENST00000508376.6:c.2217T>G	ENSP00000427089.2:p.Asp739Glu
ENST00000508624.5:c.*1539T>G	ENSP00000424265.1:n.*1539T>G
ENST00000512211.6:c.2217T>G	ENSP00000423828.2:p.Asp739Glu
ENST00000520401.1:c.230+8839T>G
NM_000038.5:c.2217T>G	NP_000029.2:p.Asp739Glu
NM_001127510.2:c.2217T>G	NP_001120982.1:p.Asp739Glu
NM_001127511.2:c.2163T>G	NP_001120983.2:p.Asp721Glu
NM_001354895.1:c.2217T>G	NP_001341824.1:p.Asp739Glu
NM_001354896.1:c.2271T>G	NP_001341825.1:p.Asp757Glu
NM_001354897.1:c.2247T>G	NP_001341826.1:p.Asp749Glu
NM_001354898.1:c.2142T>G	NP_001341827.1:p.Asp714Glu
NM_001354899.1:c.2133T>G	NP_001341828.1:p.Asp711Glu
NM_001354900.1:c.2094T>G	NP_001341829.1:p.Asp698Glu
NM_001354901.1:c.2040T>G	NP_001341830.1:p.Asp680Glu
NM_001354902.1:c.1944T>G	NP_001341831.1:p.Asp648Glu
NM_001354903.1:c.1914T>G	NP_001341832.1:p.Asp638Glu
NM_001354904.1:c.1839T>G	NP_001341833.1:p.Asp613Glu
NM_001354905.1:c.1737T>G	NP_001341834.1:p.Asp579Glu
NM_001354906.1:c.1368T>G	NP_001341835.1:p.Asp456Glu
NM_000038.6:c.2217T>G MANE Select	NP_000029.2:p.Asp739Glu
NM_001127510.3:c.2217T>G	NP_001120982.1:p.Asp739Glu
NM_001127511.3:c.2163T>G	NP_001120983.2:p.Asp721Glu
NM_001354895.2:c.2217T>G	NP_001341824.1:p.Asp739Glu
NM_001354896.2:c.2271T>G	NP_001341825.1:p.Asp757Glu
NM_001354897.2:c.2247T>G	NP_001341826.1:p.Asp749Glu
NM_001354898.2:c.2142T>G	NP_001341827.1:p.Asp714Glu
NM_001354899.2:c.2133T>G	NP_001341828.1:p.Asp711Glu
NM_001354900.2:c.2094T>G	NP_001341829.1:p.Asp698Glu
NM_001354901.2:c.2040T>G	NP_001341830.1:p.Asp680Glu
NM_001354902.2:c.1944T>G	NP_001341831.1:p.Asp648Glu
NM_001354903.2:c.1914T>G	NP_001341832.1:p.Asp638Glu
NM_001354904.2:c.1839T>G	NP_001341833.1:p.Asp613Glu
NM_001354905.2:c.1737T>G	NP_001341834.1:p.Asp579Glu
NM_001354906.2:c.1368T>G	NP_001341835.1:p.Asp456Glu