Canonical Allele Identifier: CA16029923

Gene: APC

Linked Data

• ClinVar Variation Id: 2999049
• ClinVar RCV Id: RCV003851680
• dbSNP Id: rs121913462
• gnomAD v3: 5-112839510-G-A
• gnomAD v4: 5-112839510-G-A
• COSMIC: COSM18735
• MyVariant Identifiers: chr5:g.112175207G>A (hg19) ; chr5:g.112839510G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839510G>A , CM000667.2:g.112839510G>A	GRCh38
NC_000005.9:g.112175207G>A , CM000667.1:g.112175207G>A	GRCh37
NC_000005.8:g.112203106G>A	NCBI36
NG_008481.4:g.151990G>A , LRG_130:g.151990G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3581G>A	ENSP00000484935.2:n.3581G>A
ENST00000504915.3:c.3970G>A	ENSP00000473355.2:p.Glu1324Lys
ENST00000505350.2:c.*3922G>A	ENSP00000481752.1:n.*3922G>A
ENST00000507379.6:c.3862G>A	ENSP00000423224.2:p.Glu1288Lys
ENST00000509732.6:c.3916G>A	ENSP00000426541.2:p.Glu1306Lys
ENST00000512211.7:c.3916G>A	ENSP00000423828.3:p.Glu1306Lys
ENST00000257430.9:c.3916G>A MANE Select	ENSP00000257430.4:p.Glu1306Lys
ENST00000257430.8:c.3916G>A	ENSP00000257430.4:p.Glu1306Lys
ENST00000502371.2:c.2269G>A
ENST00000508376.6:c.3916G>A	ENSP00000427089.2:p.Glu1306Lys
ENST00000508624.5:c.*3238G>A	ENSP00000424265.1:n.*3238G>A
ENST00000520401.1:c.230+10538G>A
NM_000038.5:c.3916G>A	NP_000029.2:p.Glu1306Lys
NM_001127510.2:c.3916G>A	NP_001120982.1:p.Glu1306Lys
NM_001127511.2:c.3862G>A	NP_001120983.2:p.Glu1288Lys
NM_001354895.1:c.3916G>A	NP_001341824.1:p.Glu1306Lys
NM_001354896.1:c.3970G>A	NP_001341825.1:p.Glu1324Lys
NM_001354897.1:c.3946G>A	NP_001341826.1:p.Glu1316Lys
NM_001354898.1:c.3841G>A	NP_001341827.1:p.Glu1281Lys
NM_001354899.1:c.3832G>A	NP_001341828.1:p.Glu1278Lys
NM_001354900.1:c.3793G>A	NP_001341829.1:p.Glu1265Lys
NM_001354901.1:c.3739G>A	NP_001341830.1:p.Glu1247Lys
NM_001354902.1:c.3643G>A	NP_001341831.1:p.Glu1215Lys
NM_001354903.1:c.3613G>A	NP_001341832.1:p.Glu1205Lys
NM_001354904.1:c.3538G>A	NP_001341833.1:p.Glu1180Lys
NM_001354905.1:c.3436G>A	NP_001341834.1:p.Glu1146Lys
NM_001354906.1:c.3067G>A	NP_001341835.1:p.Glu1023Lys
NM_000038.6:c.3916G>A MANE Select	NP_000029.2:p.Glu1306Lys
NM_001127510.3:c.3916G>A	NP_001120982.1:p.Glu1306Lys
NM_001127511.3:c.3862G>A	NP_001120983.2:p.Glu1288Lys
NM_001354895.2:c.3916G>A	NP_001341824.1:p.Glu1306Lys
NM_001354896.2:c.3970G>A	NP_001341825.1:p.Glu1324Lys
NM_001354897.2:c.3946G>A	NP_001341826.1:p.Glu1316Lys
NM_001354898.2:c.3841G>A	NP_001341827.1:p.Glu1281Lys
NM_001354899.2:c.3832G>A	NP_001341828.1:p.Glu1278Lys
NM_001354900.2:c.3793G>A	NP_001341829.1:p.Glu1265Lys
NM_001354901.2:c.3739G>A	NP_001341830.1:p.Glu1247Lys
NM_001354902.2:c.3643G>A	NP_001341831.1:p.Glu1215Lys
NM_001354903.2:c.3613G>A	NP_001341832.1:p.Glu1205Lys
NM_001354904.2:c.3538G>A	NP_001341833.1:p.Glu1180Lys
NM_001354905.2:c.3436G>A	NP_001341834.1:p.Glu1146Lys
NM_001354906.2:c.3067G>A	NP_001341835.1:p.Glu1023Lys