Canonical Allele Identifier: CA16037618

Gene: APC

Linked Data

• ClinVar Variation Id: 1759128
• ClinVar RCV Id: RCV002391534 ; RCV003475357
• dbSNP Id: rs1766491374
• MyVariant Identifiers: chr5:g.112178779T>A (hg19) ; chr5:g.112843082T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843082T>A , CM000667.2:g.112843082T>A	GRCh38
NC_000005.9:g.112178779T>A , CM000667.1:g.112178779T>A	GRCh37
NC_000005.8:g.112206678T>A	NCBI36
NG_008481.4:g.155562T>A , LRG_130:g.155562T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7542T>A	ENSP00000473355.2:p.His2514Gln
ENST00000505350.2:c.*7494T>A	ENSP00000481752.1:n.*7494T>A
ENST00000507379.6:c.7434T>A	ENSP00000423224.2:p.His2478Gln
ENST00000509732.6:c.7488T>A	ENSP00000426541.2:p.His2496Gln
ENST00000512211.7:c.7488T>A	ENSP00000423828.3:p.His2496Gln
ENST00000257430.9:c.7488T>A MANE Select	ENSP00000257430.4:p.His2496Gln
ENST00000257430.8:c.7488T>A	ENSP00000257430.4:p.His2496Gln
ENST00000508376.6:c.7488T>A	ENSP00000427089.2:p.His2496Gln
ENST00000520401.1:c.231-13567T>A
NM_000038.5:c.7488T>A	NP_000029.2:p.His2496Gln
NM_001127510.2:c.7488T>A	NP_001120982.1:p.His2496Gln
NM_001127511.2:c.7434T>A	NP_001120983.2:p.His2478Gln
NM_001354895.1:c.7488T>A	NP_001341824.1:p.His2496Gln
NM_001354896.1:c.7542T>A	NP_001341825.1:p.His2514Gln
NM_001354897.1:c.7518T>A	NP_001341826.1:p.His2506Gln
NM_001354898.1:c.7413T>A	NP_001341827.1:p.His2471Gln
NM_001354899.1:c.7404T>A	NP_001341828.1:p.His2468Gln
NM_001354900.1:c.7365T>A	NP_001341829.1:p.His2455Gln
NM_001354901.1:c.7311T>A	NP_001341830.1:p.His2437Gln
NM_001354902.1:c.7215T>A	NP_001341831.1:p.His2405Gln
NM_001354903.1:c.7185T>A	NP_001341832.1:p.His2395Gln
NM_001354904.1:c.7110T>A	NP_001341833.1:p.His2370Gln
NM_001354905.1:c.7008T>A	NP_001341834.1:p.His2336Gln
NM_001354906.1:c.6639T>A	NP_001341835.1:p.His2213Gln
NM_000038.6:c.7488T>A MANE Select	NP_000029.2:p.His2496Gln
NM_001127510.3:c.7488T>A	NP_001120982.1:p.His2496Gln
NM_001127511.3:c.7434T>A	NP_001120983.2:p.His2478Gln
NM_001354895.2:c.7488T>A	NP_001341824.1:p.His2496Gln
NM_001354896.2:c.7542T>A	NP_001341825.1:p.His2514Gln
NM_001354897.2:c.7518T>A	NP_001341826.1:p.His2506Gln
NM_001354898.2:c.7413T>A	NP_001341827.1:p.His2471Gln
NM_001354899.2:c.7404T>A	NP_001341828.1:p.His2468Gln
NM_001354900.2:c.7365T>A	NP_001341829.1:p.His2455Gln
NM_001354901.2:c.7311T>A	NP_001341830.1:p.His2437Gln
NM_001354902.2:c.7215T>A	NP_001341831.1:p.His2405Gln
NM_001354903.2:c.7185T>A	NP_001341832.1:p.His2395Gln
NM_001354904.2:c.7110T>A	NP_001341833.1:p.His2370Gln
NM_001354905.2:c.7008T>A	NP_001341834.1:p.His2336Gln
NM_001354906.2:c.6639T>A	NP_001341835.1:p.His2213Gln