Canonical Allele Identifier: CA012730

Gene: APC

Linked Data

• ClinVar Variation Id: 140854
• ClinVar RCV Id: RCV000129062 ; RCV000480098 ; RCV002271411 ; RCV003325186 ; RCV003997477 ; RCV001824638
• dbSNP Id: rs531178000
• ExAC: 5:112178268 G / A
• gnomAD v2: 5-112178268-G-A
• gnomAD v3: 5-112842571-G-A
• gnomAD v4: 5-112842571-G-A
• MyVariant Identifiers: chr5:g.112178268G>A (hg19) ; chr5:g.112842571G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842571G>A , CM000667.2:g.112842571G>A	GRCh38
NC_000005.9:g.112178268G>A , CM000667.1:g.112178268G>A	GRCh37
NC_000005.8:g.112206167G>A	NCBI36
NG_008481.4:g.155051G>A , LRG_130:g.155051G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7031G>A	ENSP00000473355.2:p.Arg2344Gln
ENST00000505350.2:c.*6983G>A	ENSP00000481752.1:n.*6983G>A
ENST00000507379.6:c.6923G>A	ENSP00000423224.2:p.Arg2308Gln
ENST00000509732.6:c.6977G>A	ENSP00000426541.2:p.Arg2326Gln
ENST00000512211.7:c.6977G>A	ENSP00000423828.3:p.Arg2326Gln
ENST00000257430.9:c.6977G>A MANE Select	ENSP00000257430.4:p.Arg2326Gln
ENST00000257430.8:c.6977G>A	ENSP00000257430.4:p.Arg2326Gln
ENST00000508376.6:c.6977G>A	ENSP00000427089.2:p.Arg2326Gln
ENST00000508624.5:c.*6299G>A	ENSP00000424265.1:n.*6299G>A
ENST00000520401.1:c.230+13599G>A
NM_000038.5:c.6977G>A	NP_000029.2:p.Arg2326Gln
NM_001127510.2:c.6977G>A	NP_001120982.1:p.Arg2326Gln
NM_001127511.2:c.6923G>A	NP_001120983.2:p.Arg2308Gln
NM_001354895.1:c.6977G>A	NP_001341824.1:p.Arg2326Gln
NM_001354896.1:c.7031G>A	NP_001341825.1:p.Arg2344Gln
NM_001354897.1:c.7007G>A	NP_001341826.1:p.Arg2336Gln
NM_001354898.1:c.6902G>A	NP_001341827.1:p.Arg2301Gln
NM_001354899.1:c.6893G>A	NP_001341828.1:p.Arg2298Gln
NM_001354900.1:c.6854G>A	NP_001341829.1:p.Arg2285Gln
NM_001354901.1:c.6800G>A	NP_001341830.1:p.Arg2267Gln
NM_001354902.1:c.6704G>A	NP_001341831.1:p.Arg2235Gln
NM_001354903.1:c.6674G>A	NP_001341832.1:p.Arg2225Gln
NM_001354904.1:c.6599G>A	NP_001341833.1:p.Arg2200Gln
NM_001354905.1:c.6497G>A	NP_001341834.1:p.Arg2166Gln
NM_001354906.1:c.6128G>A	NP_001341835.1:p.Arg2043Gln
NM_000038.6:c.6977G>A MANE Select	NP_000029.2:p.Arg2326Gln
NM_001127510.3:c.6977G>A	NP_001120982.1:p.Arg2326Gln
NM_001127511.3:c.6923G>A	NP_001120983.2:p.Arg2308Gln
NM_001354895.2:c.6977G>A	NP_001341824.1:p.Arg2326Gln
NM_001354896.2:c.7031G>A	NP_001341825.1:p.Arg2344Gln
NM_001354897.2:c.7007G>A	NP_001341826.1:p.Arg2336Gln
NM_001354898.2:c.6902G>A	NP_001341827.1:p.Arg2301Gln
NM_001354899.2:c.6893G>A	NP_001341828.1:p.Arg2298Gln
NM_001354900.2:c.6854G>A	NP_001341829.1:p.Arg2285Gln
NM_001354901.2:c.6800G>A	NP_001341830.1:p.Arg2267Gln
NM_001354902.2:c.6704G>A	NP_001341831.1:p.Arg2235Gln
NM_001354903.2:c.6674G>A	NP_001341832.1:p.Arg2225Gln
NM_001354904.2:c.6599G>A	NP_001341833.1:p.Arg2200Gln
NM_001354905.2:c.6497G>A	NP_001341834.1:p.Arg2166Gln
NM_001354906.2:c.6128G>A	NP_001341835.1:p.Arg2043Gln