Canonical Allele Identifier: CA16032280

Gene: APC

Linked Data

• ClinVar Variation Id: 653217
• ClinVar RCV Id: RCV002537302
• dbSNP Id: rs1580655157
• MyVariant Identifiers: chr5:g.112176294A>G (hg19) ; chr5:g.112840597A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840597A>G , CM000667.2:g.112840597A>G	GRCh38
NC_000005.9:g.112176294A>G , CM000667.1:g.112176294A>G	GRCh37
NC_000005.8:g.112204193A>G	NCBI36
NG_008481.4:g.153077A>G , LRG_130:g.153077A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5057A>G	ENSP00000473355.2:p.Glu1686Gly
ENST00000505350.2:c.*5009A>G	ENSP00000481752.1:n.*5009A>G
ENST00000507379.6:c.4949A>G	ENSP00000423224.2:p.Glu1650Gly
ENST00000509732.6:c.5003A>G	ENSP00000426541.2:p.Glu1668Gly
ENST00000512211.7:c.5003A>G	ENSP00000423828.3:p.Glu1668Gly
ENST00000257430.9:c.5003A>G MANE Select	ENSP00000257430.4:p.Glu1668Gly
ENST00000257430.8:c.5003A>G	ENSP00000257430.4:p.Glu1668Gly
ENST00000508376.6:c.5003A>G	ENSP00000427089.2:p.Glu1668Gly
ENST00000508624.5:c.*4325A>G	ENSP00000424265.1:n.*4325A>G
ENST00000520401.1:c.230+11625A>G
NM_000038.5:c.5003A>G	NP_000029.2:p.Glu1668Gly
NM_001127510.2:c.5003A>G	NP_001120982.1:p.Glu1668Gly
NM_001127511.2:c.4949A>G	NP_001120983.2:p.Glu1650Gly
NM_001354895.1:c.5003A>G	NP_001341824.1:p.Glu1668Gly
NM_001354896.1:c.5057A>G	NP_001341825.1:p.Glu1686Gly
NM_001354897.1:c.5033A>G	NP_001341826.1:p.Glu1678Gly
NM_001354898.1:c.4928A>G	NP_001341827.1:p.Glu1643Gly
NM_001354899.1:c.4919A>G	NP_001341828.1:p.Glu1640Gly
NM_001354900.1:c.4880A>G	NP_001341829.1:p.Glu1627Gly
NM_001354901.1:c.4826A>G	NP_001341830.1:p.Glu1609Gly
NM_001354902.1:c.4730A>G	NP_001341831.1:p.Glu1577Gly
NM_001354903.1:c.4700A>G	NP_001341832.1:p.Glu1567Gly
NM_001354904.1:c.4625A>G	NP_001341833.1:p.Glu1542Gly
NM_001354905.1:c.4523A>G	NP_001341834.1:p.Glu1508Gly
NM_001354906.1:c.4154A>G	NP_001341835.1:p.Glu1385Gly
NM_000038.6:c.5003A>G MANE Select	NP_000029.2:p.Glu1668Gly
NM_001127510.3:c.5003A>G	NP_001120982.1:p.Glu1668Gly
NM_001127511.3:c.4949A>G	NP_001120983.2:p.Glu1650Gly
NM_001354895.2:c.5003A>G	NP_001341824.1:p.Glu1668Gly
NM_001354896.2:c.5057A>G	NP_001341825.1:p.Glu1686Gly
NM_001354897.2:c.5033A>G	NP_001341826.1:p.Glu1678Gly
NM_001354898.2:c.4928A>G	NP_001341827.1:p.Glu1643Gly
NM_001354899.2:c.4919A>G	NP_001341828.1:p.Glu1640Gly
NM_001354900.2:c.4880A>G	NP_001341829.1:p.Glu1627Gly
NM_001354901.2:c.4826A>G	NP_001341830.1:p.Glu1609Gly
NM_001354902.2:c.4730A>G	NP_001341831.1:p.Glu1577Gly
NM_001354903.2:c.4700A>G	NP_001341832.1:p.Glu1567Gly
NM_001354904.2:c.4625A>G	NP_001341833.1:p.Glu1542Gly
NM_001354905.2:c.4523A>G	NP_001341834.1:p.Glu1508Gly
NM_001354906.2:c.4154A>G	NP_001341835.1:p.Glu1385Gly