Canonical Allele Identifier: CA010510

Gene: APC

Linked Data

• ClinVar Variation Id: 188291
• ClinVar RCV Id: RCV001357936 ; RCV003462261
• dbSNP Id: rs369831474
• gnomAD v3: 5-112841167-G-A
• gnomAD v4: 5-112841167-G-A
• MyVariant Identifiers: chr5:g.112176864G>A (hg19) ; chr5:g.112841167G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841167G>A , CM000667.2:g.112841167G>A	GRCh38
NC_000005.9:g.112176864G>A , CM000667.1:g.112176864G>A	GRCh37
NC_000005.8:g.112204763G>A	NCBI36
NG_008481.4:g.153647G>A , LRG_130:g.153647G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5627G>A	ENSP00000473355.2:p.Arg1876Gln
ENST00000505350.2:c.*5579G>A	ENSP00000481752.1:n.*5579G>A
ENST00000507379.6:c.5519G>A	ENSP00000423224.2:p.Arg1840Gln
ENST00000509732.6:c.5573G>A	ENSP00000426541.2:p.Arg1858Gln
ENST00000512211.7:c.5573G>A	ENSP00000423828.3:p.Arg1858Gln
ENST00000257430.9:c.5573G>A MANE Select	ENSP00000257430.4:p.Arg1858Gln
ENST00000257430.8:c.5573G>A	ENSP00000257430.4:p.Arg1858Gln
ENST00000508376.6:c.5573G>A	ENSP00000427089.2:p.Arg1858Gln
ENST00000508624.5:c.*4895G>A	ENSP00000424265.1:n.*4895G>A
ENST00000520401.1:c.230+12195G>A
NM_000038.5:c.5573G>A	NP_000029.2:p.Arg1858Gln
NM_001127510.2:c.5573G>A	NP_001120982.1:p.Arg1858Gln
NM_001127511.2:c.5519G>A	NP_001120983.2:p.Arg1840Gln
NM_001354895.1:c.5573G>A	NP_001341824.1:p.Arg1858Gln
NM_001354896.1:c.5627G>A	NP_001341825.1:p.Arg1876Gln
NM_001354897.1:c.5603G>A	NP_001341826.1:p.Arg1868Gln
NM_001354898.1:c.5498G>A	NP_001341827.1:p.Arg1833Gln
NM_001354899.1:c.5489G>A	NP_001341828.1:p.Arg1830Gln
NM_001354900.1:c.5450G>A	NP_001341829.1:p.Arg1817Gln
NM_001354901.1:c.5396G>A	NP_001341830.1:p.Arg1799Gln
NM_001354902.1:c.5300G>A	NP_001341831.1:p.Arg1767Gln
NM_001354903.1:c.5270G>A	NP_001341832.1:p.Arg1757Gln
NM_001354904.1:c.5195G>A	NP_001341833.1:p.Arg1732Gln
NM_001354905.1:c.5093G>A	NP_001341834.1:p.Arg1698Gln
NM_001354906.1:c.4724G>A	NP_001341835.1:p.Arg1575Gln
NM_000038.6:c.5573G>A MANE Select	NP_000029.2:p.Arg1858Gln
NM_001127510.3:c.5573G>A	NP_001120982.1:p.Arg1858Gln
NM_001127511.3:c.5519G>A	NP_001120983.2:p.Arg1840Gln
NM_001354895.2:c.5573G>A	NP_001341824.1:p.Arg1858Gln
NM_001354896.2:c.5627G>A	NP_001341825.1:p.Arg1876Gln
NM_001354897.2:c.5603G>A	NP_001341826.1:p.Arg1868Gln
NM_001354898.2:c.5498G>A	NP_001341827.1:p.Arg1833Gln
NM_001354899.2:c.5489G>A	NP_001341828.1:p.Arg1830Gln
NM_001354900.2:c.5450G>A	NP_001341829.1:p.Arg1817Gln
NM_001354901.2:c.5396G>A	NP_001341830.1:p.Arg1799Gln
NM_001354902.2:c.5300G>A	NP_001341831.1:p.Arg1767Gln
NM_001354903.2:c.5270G>A	NP_001341832.1:p.Arg1757Gln
NM_001354904.2:c.5195G>A	NP_001341833.1:p.Arg1732Gln
NM_001354905.2:c.5093G>A	NP_001341834.1:p.Arg1698Gln
NM_001354906.2:c.4724G>A	NP_001341835.1:p.Arg1575Gln