Canonical Allele Identifier: CA16037912

Gene: APC

Linked Data

• ClinVar Variation Id: 422334
• ClinVar RCV Id: RCV000483839 ; RCV002395169 ; RCV003651932
• dbSNP Id: rs1064795713
• gnomAD v4: 5-112843228-G-A
• MyVariant Identifiers: chr5:g.112178925G>A (hg19) ; chr5:g.112843228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843228G>A , CM000667.2:g.112843228G>A	GRCh38
NC_000005.9:g.112178925G>A , CM000667.1:g.112178925G>A	GRCh37
NC_000005.8:g.112206824G>A	NCBI36
NG_008481.4:g.155708G>A , LRG_130:g.155708G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7688G>A	ENSP00000473355.2:p.Gly2563Glu
ENST00000505350.2:c.*7640G>A	ENSP00000481752.1:n.*7640G>A
ENST00000507379.6:c.7580G>A	ENSP00000423224.2:p.Gly2527Glu
ENST00000509732.6:c.7634G>A	ENSP00000426541.2:p.Gly2545Glu
ENST00000512211.7:c.7634G>A	ENSP00000423828.3:p.Gly2545Glu
ENST00000257430.9:c.7634G>A MANE Select	ENSP00000257430.4:p.Gly2545Glu
ENST00000257430.8:c.7634G>A	ENSP00000257430.4:p.Gly2545Glu
ENST00000508376.6:c.7634G>A	ENSP00000427089.2:p.Gly2545Glu
ENST00000520401.1:c.231-13421G>A
NM_000038.5:c.7634G>A	NP_000029.2:p.Gly2545Glu
NM_001127510.2:c.7634G>A	NP_001120982.1:p.Gly2545Glu
NM_001127511.2:c.7580G>A	NP_001120983.2:p.Gly2527Glu
NM_001354895.1:c.7634G>A	NP_001341824.1:p.Gly2545Glu
NM_001354896.1:c.7688G>A	NP_001341825.1:p.Gly2563Glu
NM_001354897.1:c.7664G>A	NP_001341826.1:p.Gly2555Glu
NM_001354898.1:c.7559G>A	NP_001341827.1:p.Gly2520Glu
NM_001354899.1:c.7550G>A	NP_001341828.1:p.Gly2517Glu
NM_001354900.1:c.7511G>A	NP_001341829.1:p.Gly2504Glu
NM_001354901.1:c.7457G>A	NP_001341830.1:p.Gly2486Glu
NM_001354902.1:c.7361G>A	NP_001341831.1:p.Gly2454Glu
NM_001354903.1:c.7331G>A	NP_001341832.1:p.Gly2444Glu
NM_001354904.1:c.7256G>A	NP_001341833.1:p.Gly2419Glu
NM_001354905.1:c.7154G>A	NP_001341834.1:p.Gly2385Glu
NM_001354906.1:c.6785G>A	NP_001341835.1:p.Gly2262Glu
NM_000038.6:c.7634G>A MANE Select	NP_000029.2:p.Gly2545Glu
NM_001127510.3:c.7634G>A	NP_001120982.1:p.Gly2545Glu
NM_001127511.3:c.7580G>A	NP_001120983.2:p.Gly2527Glu
NM_001354895.2:c.7634G>A	NP_001341824.1:p.Gly2545Glu
NM_001354896.2:c.7688G>A	NP_001341825.1:p.Gly2563Glu
NM_001354897.2:c.7664G>A	NP_001341826.1:p.Gly2555Glu
NM_001354898.2:c.7559G>A	NP_001341827.1:p.Gly2520Glu
NM_001354899.2:c.7550G>A	NP_001341828.1:p.Gly2517Glu
NM_001354900.2:c.7511G>A	NP_001341829.1:p.Gly2504Glu
NM_001354901.2:c.7457G>A	NP_001341830.1:p.Gly2486Glu
NM_001354902.2:c.7361G>A	NP_001341831.1:p.Gly2454Glu
NM_001354903.2:c.7331G>A	NP_001341832.1:p.Gly2444Glu
NM_001354904.2:c.7256G>A	NP_001341833.1:p.Gly2419Glu
NM_001354905.2:c.7154G>A	NP_001341834.1:p.Gly2385Glu
NM_001354906.2:c.6785G>A	NP_001341835.1:p.Gly2262Glu