Canonical Allele Identifier: CA16025242

Gene: APC

Linked Data

• dbSNP Id: rs2149841534
• MyVariant Identifiers: chr5:g.112170698T>A (hg19) ; chr5:g.112835001T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835001T>A , CM000667.2:g.112835001T>A	GRCh38
NC_000005.9:g.112170698T>A , CM000667.1:g.112170698T>A	GRCh37
NC_000005.8:g.112198597T>A	NCBI36
NG_008481.4:g.147481T>A , LRG_130:g.147481T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1459T>A	ENSP00000484935.2:p.Leu487Met
ENST00000504915.3:c.1848T>A	ENSP00000473355.2:p.His616Gln
ENST00000505350.2:c.*1800T>A	ENSP00000481752.1:n.*1800T>A
ENST00000507379.6:c.1740T>A	ENSP00000423224.2:p.His580Gln
ENST00000509732.6:c.1794T>A	ENSP00000426541.2:p.His598Gln
ENST00000512211.7:c.1794T>A	ENSP00000423828.3:p.His598Gln
ENST00000257430.9:c.1794T>A MANE Select	ENSP00000257430.4:p.His598Gln
ENST00000257430.8:c.1794T>A	ENSP00000257430.4:p.His598Gln
ENST00000502371.2:c.147T>A
ENST00000504915.2:c.483T>A	ENSP00000473355.1:p.His161Gln
ENST00000507379.5:c.1740T>A	ENSP00000423224.1:p.His580Gln
ENST00000508376.6:c.1794T>A	ENSP00000427089.2:p.His598Gln
ENST00000508624.5:c.*1116T>A	ENSP00000424265.1:n.*1116T>A
ENST00000512211.6:c.1794T>A	ENSP00000423828.2:p.His598Gln
ENST00000520401.1:c.230+6029T>A
NM_000038.5:c.1794T>A	NP_000029.2:p.His598Gln
NM_001127510.2:c.1794T>A	NP_001120982.1:p.His598Gln
NM_001127511.2:c.1740T>A	NP_001120983.2:p.His580Gln
NM_001354895.1:c.1794T>A	NP_001341824.1:p.His598Gln
NM_001354896.1:c.1848T>A	NP_001341825.1:p.His616Gln
NM_001354897.1:c.1824T>A	NP_001341826.1:p.His608Gln
NM_001354898.1:c.1719T>A	NP_001341827.1:p.His573Gln
NM_001354899.1:c.1710T>A	NP_001341828.1:p.His570Gln
NM_001354900.1:c.1671T>A	NP_001341829.1:p.His557Gln
NM_001354901.1:c.1617T>A	NP_001341830.1:p.His539Gln
NM_001354902.1:c.1521T>A	NP_001341831.1:p.His507Gln
NM_001354903.1:c.1491T>A	NP_001341832.1:p.His497Gln
NM_001354904.1:c.1416T>A	NP_001341833.1:p.His472Gln
NM_001354905.1:c.1314T>A	NP_001341834.1:p.His438Gln
NM_001354906.1:c.945T>A	NP_001341835.1:p.His315Gln
NM_000038.6:c.1794T>A MANE Select	NP_000029.2:p.His598Gln
NM_001127510.3:c.1794T>A	NP_001120982.1:p.His598Gln
NM_001127511.3:c.1740T>A	NP_001120983.2:p.His580Gln
NM_001354895.2:c.1794T>A	NP_001341824.1:p.His598Gln
NM_001354896.2:c.1848T>A	NP_001341825.1:p.His616Gln
NM_001354897.2:c.1824T>A	NP_001341826.1:p.His608Gln
NM_001354898.2:c.1719T>A	NP_001341827.1:p.His573Gln
NM_001354899.2:c.1710T>A	NP_001341828.1:p.His570Gln
NM_001354900.2:c.1671T>A	NP_001341829.1:p.His557Gln
NM_001354901.2:c.1617T>A	NP_001341830.1:p.His539Gln
NM_001354902.2:c.1521T>A	NP_001341831.1:p.His507Gln
NM_001354903.2:c.1491T>A	NP_001341832.1:p.His497Gln
NM_001354904.2:c.1416T>A	NP_001341833.1:p.His472Gln
NM_001354905.2:c.1314T>A	NP_001341834.1:p.His438Gln
NM_001354906.2:c.945T>A	NP_001341835.1:p.His315Gln