Canonical Allele Identifier: CA16037303

Gene: APC

Linked Data

• ClinVar Variation Id: 470088
• ClinVar RCV Id: RCV000561931 ; RCV001192947 ; RCV003742783 ; RCV001824341
• dbSNP Id: rs1465349688
• gnomAD v2: 5-112178625-A-G
• gnomAD v4: 5-112842928-A-G
• MyVariant Identifiers: chr5:g.112178625A>G (hg19) ; chr5:g.112842928A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842928A>G , CM000667.2:g.112842928A>G	GRCh38
NC_000005.9:g.112178625A>G , CM000667.1:g.112178625A>G	GRCh37
NC_000005.8:g.112206524A>G	NCBI36
NG_008481.4:g.155408A>G , LRG_130:g.155408A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7388A>G	ENSP00000473355.2:p.Lys2463Arg
ENST00000505350.2:c.*7340A>G	ENSP00000481752.1:n.*7340A>G
ENST00000507379.6:c.7280A>G	ENSP00000423224.2:p.Lys2427Arg
ENST00000509732.6:c.7334A>G	ENSP00000426541.2:p.Lys2445Arg
ENST00000512211.7:c.7334A>G	ENSP00000423828.3:p.Lys2445Arg
ENST00000257430.9:c.7334A>G MANE Select	ENSP00000257430.4:p.Lys2445Arg
ENST00000257430.8:c.7334A>G	ENSP00000257430.4:p.Lys2445Arg
ENST00000508376.6:c.7334A>G	ENSP00000427089.2:p.Lys2445Arg
ENST00000520401.1:c.231-13721A>G
NM_000038.5:c.7334A>G	NP_000029.2:p.Lys2445Arg
NM_001127510.2:c.7334A>G	NP_001120982.1:p.Lys2445Arg
NM_001127511.2:c.7280A>G	NP_001120983.2:p.Lys2427Arg
NM_001354895.1:c.7334A>G	NP_001341824.1:p.Lys2445Arg
NM_001354896.1:c.7388A>G	NP_001341825.1:p.Lys2463Arg
NM_001354897.1:c.7364A>G	NP_001341826.1:p.Lys2455Arg
NM_001354898.1:c.7259A>G	NP_001341827.1:p.Lys2420Arg
NM_001354899.1:c.7250A>G	NP_001341828.1:p.Lys2417Arg
NM_001354900.1:c.7211A>G	NP_001341829.1:p.Lys2404Arg
NM_001354901.1:c.7157A>G	NP_001341830.1:p.Lys2386Arg
NM_001354902.1:c.7061A>G	NP_001341831.1:p.Lys2354Arg
NM_001354903.1:c.7031A>G	NP_001341832.1:p.Lys2344Arg
NM_001354904.1:c.6956A>G	NP_001341833.1:p.Lys2319Arg
NM_001354905.1:c.6854A>G	NP_001341834.1:p.Lys2285Arg
NM_001354906.1:c.6485A>G	NP_001341835.1:p.Lys2162Arg
NM_000038.6:c.7334A>G MANE Select	NP_000029.2:p.Lys2445Arg
NM_001127510.3:c.7334A>G	NP_001120982.1:p.Lys2445Arg
NM_001127511.3:c.7280A>G	NP_001120983.2:p.Lys2427Arg
NM_001354895.2:c.7334A>G	NP_001341824.1:p.Lys2445Arg
NM_001354896.2:c.7388A>G	NP_001341825.1:p.Lys2463Arg
NM_001354897.2:c.7364A>G	NP_001341826.1:p.Lys2455Arg
NM_001354898.2:c.7259A>G	NP_001341827.1:p.Lys2420Arg
NM_001354899.2:c.7250A>G	NP_001341828.1:p.Lys2417Arg
NM_001354900.2:c.7211A>G	NP_001341829.1:p.Lys2404Arg
NM_001354901.2:c.7157A>G	NP_001341830.1:p.Lys2386Arg
NM_001354902.2:c.7061A>G	NP_001341831.1:p.Lys2354Arg
NM_001354903.2:c.7031A>G	NP_001341832.1:p.Lys2344Arg
NM_001354904.2:c.6956A>G	NP_001341833.1:p.Lys2319Arg
NM_001354905.2:c.6854A>G	NP_001341834.1:p.Lys2285Arg
NM_001354906.2:c.6485A>G	NP_001341835.1:p.Lys2162Arg