Canonical Allele Identifier: CA16025449

Gene: APC

Linked Data

• dbSNP Id: rs1350471118
• MyVariant Identifiers: chr5:g.112170793C>A (hg19) ; chr5:g.112835096C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835096C>A , CM000667.2:g.112835096C>A	GRCh38
NC_000005.9:g.112170793C>A , CM000667.1:g.112170793C>A	GRCh37
NC_000005.8:g.112198692C>A	NCBI36
NG_008481.4:g.147576C>A , LRG_130:g.147576C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1554C>A	ENSP00000484935.2:n.1554C>A
ENST00000504915.3:c.1943C>A	ENSP00000473355.2:p.Ala648Asp
ENST00000505350.2:c.*1895C>A	ENSP00000481752.1:n.*1895C>A
ENST00000507379.6:c.1835C>A	ENSP00000423224.2:p.Ala612Asp
ENST00000509732.6:c.1889C>A	ENSP00000426541.2:p.Ala630Asp
ENST00000512211.7:c.1889C>A	ENSP00000423828.3:p.Ala630Asp
ENST00000257430.9:c.1889C>A MANE Select	ENSP00000257430.4:p.Ala630Asp
ENST00000257430.8:c.1889C>A	ENSP00000257430.4:p.Ala630Asp
ENST00000502371.2:c.242C>A
ENST00000504915.2:c.578C>A	ENSP00000473355.1:p.Ala193Asp
ENST00000507379.5:c.1835C>A	ENSP00000423224.1:p.Ala612Asp
ENST00000508376.6:c.1889C>A	ENSP00000427089.2:p.Ala630Asp
ENST00000508624.5:c.*1211C>A	ENSP00000424265.1:n.*1211C>A
ENST00000512211.6:c.1889C>A	ENSP00000423828.2:p.Ala630Asp
ENST00000520401.1:c.230+6124C>A
NM_000038.5:c.1889C>A	NP_000029.2:p.Ala630Asp
NM_001127510.2:c.1889C>A	NP_001120982.1:p.Ala630Asp
NM_001127511.2:c.1835C>A	NP_001120983.2:p.Ala612Asp
NM_001354895.1:c.1889C>A	NP_001341824.1:p.Ala630Asp
NM_001354896.1:c.1943C>A	NP_001341825.1:p.Ala648Asp
NM_001354897.1:c.1919C>A	NP_001341826.1:p.Ala640Asp
NM_001354898.1:c.1814C>A	NP_001341827.1:p.Ala605Asp
NM_001354899.1:c.1805C>A	NP_001341828.1:p.Ala602Asp
NM_001354900.1:c.1766C>A	NP_001341829.1:p.Ala589Asp
NM_001354901.1:c.1712C>A	NP_001341830.1:p.Ala571Asp
NM_001354902.1:c.1616C>A	NP_001341831.1:p.Ala539Asp
NM_001354903.1:c.1586C>A	NP_001341832.1:p.Ala529Asp
NM_001354904.1:c.1511C>A	NP_001341833.1:p.Ala504Asp
NM_001354905.1:c.1409C>A	NP_001341834.1:p.Ala470Asp
NM_001354906.1:c.1040C>A	NP_001341835.1:p.Ala347Asp
NM_000038.6:c.1889C>A MANE Select	NP_000029.2:p.Ala630Asp
NM_001127510.3:c.1889C>A	NP_001120982.1:p.Ala630Asp
NM_001127511.3:c.1835C>A	NP_001120983.2:p.Ala612Asp
NM_001354895.2:c.1889C>A	NP_001341824.1:p.Ala630Asp
NM_001354896.2:c.1943C>A	NP_001341825.1:p.Ala648Asp
NM_001354897.2:c.1919C>A	NP_001341826.1:p.Ala640Asp
NM_001354898.2:c.1814C>A	NP_001341827.1:p.Ala605Asp
NM_001354899.2:c.1805C>A	NP_001341828.1:p.Ala602Asp
NM_001354900.2:c.1766C>A	NP_001341829.1:p.Ala589Asp
NM_001354901.2:c.1712C>A	NP_001341830.1:p.Ala571Asp
NM_001354902.2:c.1616C>A	NP_001341831.1:p.Ala539Asp
NM_001354903.2:c.1586C>A	NP_001341832.1:p.Ala529Asp
NM_001354904.2:c.1511C>A	NP_001341833.1:p.Ala504Asp
NM_001354905.2:c.1409C>A	NP_001341834.1:p.Ala470Asp
NM_001354906.2:c.1040C>A	NP_001341835.1:p.Ala347Asp