Canonical Allele Identifier: CA16031651

Gene: APC

Linked Data

• ClinVar Variation Id: 419638
• ClinVar RCV Id: RCV000487107 ; RCV003463999 ; RCV002341133
• dbSNP Id: rs1064794008
• gnomAD v4: 5-112840300-A-G
• MyVariant Identifiers: chr5:g.112175997A>G (hg19) ; chr5:g.112840300A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840300A>G , CM000667.2:g.112840300A>G	GRCh38
NC_000005.9:g.112175997A>G , CM000667.1:g.112175997A>G	GRCh37
NC_000005.8:g.112203896A>G	NCBI36
NG_008481.4:g.152780A>G , LRG_130:g.152780A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4760A>G	ENSP00000473355.2:p.Asp1587Gly
ENST00000505350.2:c.*4712A>G	ENSP00000481752.1:n.*4712A>G
ENST00000507379.6:c.4652A>G	ENSP00000423224.2:p.Asp1551Gly
ENST00000509732.6:c.4706A>G	ENSP00000426541.2:p.Asp1569Gly
ENST00000512211.7:c.4706A>G	ENSP00000423828.3:p.Asp1569Gly
ENST00000257430.9:c.4706A>G MANE Select	ENSP00000257430.4:p.Asp1569Gly
ENST00000257430.8:c.4706A>G	ENSP00000257430.4:p.Asp1569Gly
ENST00000508376.6:c.4706A>G	ENSP00000427089.2:p.Asp1569Gly
ENST00000508624.5:c.*4028A>G	ENSP00000424265.1:n.*4028A>G
ENST00000520401.1:c.230+11328A>G
NM_000038.5:c.4706A>G	NP_000029.2:p.Asp1569Gly
NM_001127510.2:c.4706A>G	NP_001120982.1:p.Asp1569Gly
NM_001127511.2:c.4652A>G	NP_001120983.2:p.Asp1551Gly
NM_001354895.1:c.4706A>G	NP_001341824.1:p.Asp1569Gly
NM_001354896.1:c.4760A>G	NP_001341825.1:p.Asp1587Gly
NM_001354897.1:c.4736A>G	NP_001341826.1:p.Asp1579Gly
NM_001354898.1:c.4631A>G	NP_001341827.1:p.Asp1544Gly
NM_001354899.1:c.4622A>G	NP_001341828.1:p.Asp1541Gly
NM_001354900.1:c.4583A>G	NP_001341829.1:p.Asp1528Gly
NM_001354901.1:c.4529A>G	NP_001341830.1:p.Asp1510Gly
NM_001354902.1:c.4433A>G	NP_001341831.1:p.Asp1478Gly
NM_001354903.1:c.4403A>G	NP_001341832.1:p.Asp1468Gly
NM_001354904.1:c.4328A>G	NP_001341833.1:p.Asp1443Gly
NM_001354905.1:c.4226A>G	NP_001341834.1:p.Asp1409Gly
NM_001354906.1:c.3857A>G	NP_001341835.1:p.Asp1286Gly
NM_000038.6:c.4706A>G MANE Select	NP_000029.2:p.Asp1569Gly
NM_001127510.3:c.4706A>G	NP_001120982.1:p.Asp1569Gly
NM_001127511.3:c.4652A>G	NP_001120983.2:p.Asp1551Gly
NM_001354895.2:c.4706A>G	NP_001341824.1:p.Asp1569Gly
NM_001354896.2:c.4760A>G	NP_001341825.1:p.Asp1587Gly
NM_001354897.2:c.4736A>G	NP_001341826.1:p.Asp1579Gly
NM_001354898.2:c.4631A>G	NP_001341827.1:p.Asp1544Gly
NM_001354899.2:c.4622A>G	NP_001341828.1:p.Asp1541Gly
NM_001354900.2:c.4583A>G	NP_001341829.1:p.Asp1528Gly
NM_001354901.2:c.4529A>G	NP_001341830.1:p.Asp1510Gly
NM_001354902.2:c.4433A>G	NP_001341831.1:p.Asp1478Gly
NM_001354903.2:c.4403A>G	NP_001341832.1:p.Asp1468Gly
NM_001354904.2:c.4328A>G	NP_001341833.1:p.Asp1443Gly
NM_001354905.2:c.4226A>G	NP_001341834.1:p.Asp1409Gly
NM_001354906.2:c.3857A>G	NP_001341835.1:p.Asp1286Gly