Canonical Allele Identifier: CA012825

Gene: APC

Linked Data

• ClinVar Variation Id: 127317
• ClinVar RCV Id: RCV000115119 ; RCV001026018 ; RCV003534344 ; RCV003997229
• dbSNP Id: rs587779806
• ExAC: 5:112178379 A / G
• gnomAD v2: 5-112178379-A-G
• gnomAD v3: 5-112842682-A-G
• gnomAD v4: 5-112842682-A-G
• MyVariant Identifiers: chr5:g.112178379A>G (hg19) ; chr5:g.112842682A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842682A>G , CM000667.2:g.112842682A>G	GRCh38
NC_000005.9:g.112178379A>G , CM000667.1:g.112178379A>G	GRCh37
NC_000005.8:g.112206278A>G	NCBI36
NG_008481.4:g.155162A>G , LRG_130:g.155162A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7142A>G	ENSP00000473355.2:p.Lys2381Arg
ENST00000505350.2:c.*7094A>G	ENSP00000481752.1:n.*7094A>G
ENST00000507379.6:c.7034A>G	ENSP00000423224.2:p.Lys2345Arg
ENST00000509732.6:c.7088A>G	ENSP00000426541.2:p.Lys2363Arg
ENST00000512211.7:c.7088A>G	ENSP00000423828.3:p.Lys2363Arg
ENST00000257430.9:c.7088A>G MANE Select	ENSP00000257430.4:p.Lys2363Arg
ENST00000257430.8:c.7088A>G	ENSP00000257430.4:p.Lys2363Arg
ENST00000508376.6:c.7088A>G	ENSP00000427089.2:p.Lys2363Arg
ENST00000508624.5:c.*6410A>G	ENSP00000424265.1:n.*6410A>G
ENST00000520401.1:c.230+13710A>G
NM_000038.5:c.7088A>G	NP_000029.2:p.Lys2363Arg
NM_001127510.2:c.7088A>G	NP_001120982.1:p.Lys2363Arg
NM_001127511.2:c.7034A>G	NP_001120983.2:p.Lys2345Arg
NM_001354895.1:c.7088A>G	NP_001341824.1:p.Lys2363Arg
NM_001354896.1:c.7142A>G	NP_001341825.1:p.Lys2381Arg
NM_001354897.1:c.7118A>G	NP_001341826.1:p.Lys2373Arg
NM_001354898.1:c.7013A>G	NP_001341827.1:p.Lys2338Arg
NM_001354899.1:c.7004A>G	NP_001341828.1:p.Lys2335Arg
NM_001354900.1:c.6965A>G	NP_001341829.1:p.Lys2322Arg
NM_001354901.1:c.6911A>G	NP_001341830.1:p.Lys2304Arg
NM_001354902.1:c.6815A>G	NP_001341831.1:p.Lys2272Arg
NM_001354903.1:c.6785A>G	NP_001341832.1:p.Lys2262Arg
NM_001354904.1:c.6710A>G	NP_001341833.1:p.Lys2237Arg
NM_001354905.1:c.6608A>G	NP_001341834.1:p.Lys2203Arg
NM_001354906.1:c.6239A>G	NP_001341835.1:p.Lys2080Arg
NM_000038.6:c.7088A>G MANE Select	NP_000029.2:p.Lys2363Arg
NM_001127510.3:c.7088A>G	NP_001120982.1:p.Lys2363Arg
NM_001127511.3:c.7034A>G	NP_001120983.2:p.Lys2345Arg
NM_001354895.2:c.7088A>G	NP_001341824.1:p.Lys2363Arg
NM_001354896.2:c.7142A>G	NP_001341825.1:p.Lys2381Arg
NM_001354897.2:c.7118A>G	NP_001341826.1:p.Lys2373Arg
NM_001354898.2:c.7013A>G	NP_001341827.1:p.Lys2338Arg
NM_001354899.2:c.7004A>G	NP_001341828.1:p.Lys2335Arg
NM_001354900.2:c.6965A>G	NP_001341829.1:p.Lys2322Arg
NM_001354901.2:c.6911A>G	NP_001341830.1:p.Lys2304Arg
NM_001354902.2:c.6815A>G	NP_001341831.1:p.Lys2272Arg
NM_001354903.2:c.6785A>G	NP_001341832.1:p.Lys2262Arg
NM_001354904.2:c.6710A>G	NP_001341833.1:p.Lys2237Arg
NM_001354905.2:c.6608A>G	NP_001341834.1:p.Lys2203Arg
NM_001354906.2:c.6239A>G	NP_001341835.1:p.Lys2080Arg