Canonical Allele Identifier: CA014023

Gene: APC

Linked Data

• ClinVar Variation Id: 41515
• ClinVar RCV Id: RCV000034400 ; RCV000129389 ; RCV000200515 ; RCV003650357 ; RCV003996157
• dbSNP Id: rs200406572
• ExAC: 5:112179057 A / G
• gnomAD v2: 5-112179057-A-G
• gnomAD v3: 5-112843360-A-G
• gnomAD v4: 5-112843360-A-G
• MyVariant Identifiers: chr5:g.112179057A>G (hg19) ; chr5:g.112843360A>G (hg38)
• PubMed: PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843360A>G , CM000667.2:g.112843360A>G	GRCh38
NC_000005.9:g.112179057A>G , CM000667.1:g.112179057A>G	GRCh37
NC_000005.8:g.112206956A>G	NCBI36
NG_008481.4:g.155840A>G , LRG_130:g.155840A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7820A>G	ENSP00000473355.2:p.Glu2607Gly
ENST00000505350.2:c.*7772A>G	ENSP00000481752.1:n.*7772A>G
ENST00000507379.6:c.7712A>G	ENSP00000423224.2:p.Glu2571Gly
ENST00000509732.6:c.7766A>G	ENSP00000426541.2:p.Glu2589Gly
ENST00000512211.7:c.7766A>G	ENSP00000423828.3:p.Glu2589Gly
ENST00000257430.9:c.7766A>G MANE Select	ENSP00000257430.4:p.Glu2589Gly
ENST00000257430.8:c.7766A>G	ENSP00000257430.4:p.Glu2589Gly
ENST00000508376.6:c.7766A>G	ENSP00000427089.2:p.Glu2589Gly
ENST00000520401.1:c.231-13289A>G
NM_000038.5:c.7766A>G	NP_000029.2:p.Glu2589Gly
NM_001127510.2:c.7766A>G	NP_001120982.1:p.Glu2589Gly
NM_001127511.2:c.7712A>G	NP_001120983.2:p.Glu2571Gly
NM_001354895.1:c.7766A>G	NP_001341824.1:p.Glu2589Gly
NM_001354896.1:c.7820A>G	NP_001341825.1:p.Glu2607Gly
NM_001354897.1:c.7796A>G	NP_001341826.1:p.Glu2599Gly
NM_001354898.1:c.7691A>G	NP_001341827.1:p.Glu2564Gly
NM_001354899.1:c.7682A>G	NP_001341828.1:p.Glu2561Gly
NM_001354900.1:c.7643A>G	NP_001341829.1:p.Glu2548Gly
NM_001354901.1:c.7589A>G	NP_001341830.1:p.Glu2530Gly
NM_001354902.1:c.7493A>G	NP_001341831.1:p.Glu2498Gly
NM_001354903.1:c.7463A>G	NP_001341832.1:p.Glu2488Gly
NM_001354904.1:c.7388A>G	NP_001341833.1:p.Glu2463Gly
NM_001354905.1:c.7286A>G	NP_001341834.1:p.Glu2429Gly
NM_001354906.1:c.6917A>G	NP_001341835.1:p.Glu2306Gly
NM_000038.6:c.7766A>G MANE Select	NP_000029.2:p.Glu2589Gly
NM_001127510.3:c.7766A>G	NP_001120982.1:p.Glu2589Gly
NM_001127511.3:c.7712A>G	NP_001120983.2:p.Glu2571Gly
NM_001354895.2:c.7766A>G	NP_001341824.1:p.Glu2589Gly
NM_001354896.2:c.7820A>G	NP_001341825.1:p.Glu2607Gly
NM_001354897.2:c.7796A>G	NP_001341826.1:p.Glu2599Gly
NM_001354898.2:c.7691A>G	NP_001341827.1:p.Glu2564Gly
NM_001354899.2:c.7682A>G	NP_001341828.1:p.Glu2561Gly
NM_001354900.2:c.7643A>G	NP_001341829.1:p.Glu2548Gly
NM_001354901.2:c.7589A>G	NP_001341830.1:p.Glu2530Gly
NM_001354902.2:c.7493A>G	NP_001341831.1:p.Glu2498Gly
NM_001354903.2:c.7463A>G	NP_001341832.1:p.Glu2488Gly
NM_001354904.2:c.7388A>G	NP_001341833.1:p.Glu2463Gly
NM_001354905.2:c.7286A>G	NP_001341834.1:p.Glu2429Gly
NM_001354906.2:c.6917A>G	NP_001341835.1:p.Glu2306Gly