Canonical Allele Identifier: CA16038033

Gene: APC

Linked Data

• ClinVar Variation Id: 2566987
• ClinVar RCV Id: RCV003278281
• MyVariant Identifiers: chr5:g.112178981T>G (hg19) ; chr5:g.112843284T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843284T>G , CM000667.2:g.112843284T>G	GRCh38
NC_000005.9:g.112178981T>G , CM000667.1:g.112178981T>G	GRCh37
NC_000005.8:g.112206880T>G	NCBI36
NG_008481.4:g.155764T>G , LRG_130:g.155764T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7744T>G	ENSP00000473355.2:p.Trp2582Gly
ENST00000505350.2:c.*7696T>G	ENSP00000481752.1:n.*7696T>G
ENST00000507379.6:c.7636T>G	ENSP00000423224.2:p.Trp2546Gly
ENST00000509732.6:c.7690T>G	ENSP00000426541.2:p.Trp2564Gly
ENST00000512211.7:c.7690T>G	ENSP00000423828.3:p.Trp2564Gly
ENST00000257430.9:c.7690T>G MANE Select	ENSP00000257430.4:p.Trp2564Gly
ENST00000257430.8:c.7690T>G	ENSP00000257430.4:p.Trp2564Gly
ENST00000508376.6:c.7690T>G	ENSP00000427089.2:p.Trp2564Gly
ENST00000520401.1:c.231-13365T>G
NM_000038.5:c.7690T>G	NP_000029.2:p.Trp2564Gly
NM_001127510.2:c.7690T>G	NP_001120982.1:p.Trp2564Gly
NM_001127511.2:c.7636T>G	NP_001120983.2:p.Trp2546Gly
NM_001354895.1:c.7690T>G	NP_001341824.1:p.Trp2564Gly
NM_001354896.1:c.7744T>G	NP_001341825.1:p.Trp2582Gly
NM_001354897.1:c.7720T>G	NP_001341826.1:p.Trp2574Gly
NM_001354898.1:c.7615T>G	NP_001341827.1:p.Trp2539Gly
NM_001354899.1:c.7606T>G	NP_001341828.1:p.Trp2536Gly
NM_001354900.1:c.7567T>G	NP_001341829.1:p.Trp2523Gly
NM_001354901.1:c.7513T>G	NP_001341830.1:p.Trp2505Gly
NM_001354902.1:c.7417T>G	NP_001341831.1:p.Trp2473Gly
NM_001354903.1:c.7387T>G	NP_001341832.1:p.Trp2463Gly
NM_001354904.1:c.7312T>G	NP_001341833.1:p.Trp2438Gly
NM_001354905.1:c.7210T>G	NP_001341834.1:p.Trp2404Gly
NM_001354906.1:c.6841T>G	NP_001341835.1:p.Trp2281Gly
NM_000038.6:c.7690T>G MANE Select	NP_000029.2:p.Trp2564Gly
NM_001127510.3:c.7690T>G	NP_001120982.1:p.Trp2564Gly
NM_001127511.3:c.7636T>G	NP_001120983.2:p.Trp2546Gly
NM_001354895.2:c.7690T>G	NP_001341824.1:p.Trp2564Gly
NM_001354896.2:c.7744T>G	NP_001341825.1:p.Trp2582Gly
NM_001354897.2:c.7720T>G	NP_001341826.1:p.Trp2574Gly
NM_001354898.2:c.7615T>G	NP_001341827.1:p.Trp2539Gly
NM_001354899.2:c.7606T>G	NP_001341828.1:p.Trp2536Gly
NM_001354900.2:c.7567T>G	NP_001341829.1:p.Trp2523Gly
NM_001354901.2:c.7513T>G	NP_001341830.1:p.Trp2505Gly
NM_001354902.2:c.7417T>G	NP_001341831.1:p.Trp2473Gly
NM_001354903.2:c.7387T>G	NP_001341832.1:p.Trp2463Gly
NM_001354904.2:c.7312T>G	NP_001341833.1:p.Trp2438Gly
NM_001354905.2:c.7210T>G	NP_001341834.1:p.Trp2404Gly
NM_001354906.2:c.6841T>G	NP_001341835.1:p.Trp2281Gly