Canonical Allele Identifier: CA16036051
Gene: APC HGNC NCBI
ClinVar Variation:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842330G>A , CM000667.2:g.112842330G>A GRCh38
NC_000005.9:g.112178027G>A , CM000667.1:g.112178027G>A GRCh37
NC_000005.8:g.112205926G>A NCBI36
NG_008481.4:g.154810G>A , LRG_130:g.154810G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.6790G>A ENSP00000473355.2:p.Val2264Ile
ENST00000505350.2:c.*6742G>A ENSP00000481752.1:n.*6742G>A
ENST00000507379.6:c.6682G>A ENSP00000423224.2:p.Val2228Ile
ENST00000509732.6:c.6736G>A ENSP00000426541.2:p.Val2246Ile
ENST00000512211.7:c.6736G>A ENSP00000423828.3:p.Val2246Ile
ENST00000257430.9:c.6736G>A MANE Select ENSP00000257430.4:p.Val2246Ile
ENST00000257430.8:c.6736G>A ENSP00000257430.4:p.Val2246Ile
ENST00000508376.6:c.6736G>A ENSP00000427089.2:p.Val2246Ile
ENST00000508624.5:c.*6058G>A ENSP00000424265.1:n.*6058G>A
ENST00000520401.1:c.230+13358G>A
NM_000038.5:c.6736G>A NP_000029.2:p.Val2246Ile
NM_001127510.2:c.6736G>A NP_001120982.1:p.Val2246Ile
NM_001127511.2:c.6682G>A NP_001120983.2:p.Val2228Ile
NM_001354895.1:c.6736G>A NP_001341824.1:p.Val2246Ile
NM_001354896.1:c.6790G>A NP_001341825.1:p.Val2264Ile
NM_001354897.1:c.6766G>A NP_001341826.1:p.Val2256Ile
NM_001354898.1:c.6661G>A NP_001341827.1:p.Val2221Ile
NM_001354899.1:c.6652G>A NP_001341828.1:p.Val2218Ile
NM_001354900.1:c.6613G>A NP_001341829.1:p.Val2205Ile
NM_001354901.1:c.6559G>A NP_001341830.1:p.Val2187Ile
NM_001354902.1:c.6463G>A NP_001341831.1:p.Val2155Ile
NM_001354903.1:c.6433G>A NP_001341832.1:p.Val2145Ile
NM_001354904.1:c.6358G>A NP_001341833.1:p.Val2120Ile
NM_001354905.1:c.6256G>A NP_001341834.1:p.Val2086Ile
NM_001354906.1:c.5887G>A NP_001341835.1:p.Val1963Ile
NM_000038.6:c.6736G>A MANE Select NP_000029.2:p.Val2246Ile
NM_001127510.3:c.6736G>A NP_001120982.1:p.Val2246Ile
NM_001127511.3:c.6682G>A NP_001120983.2:p.Val2228Ile
NM_001354895.2:c.6736G>A NP_001341824.1:p.Val2246Ile
NM_001354896.2:c.6790G>A NP_001341825.1:p.Val2264Ile
NM_001354897.2:c.6766G>A NP_001341826.1:p.Val2256Ile
NM_001354898.2:c.6661G>A NP_001341827.1:p.Val2221Ile
NM_001354899.2:c.6652G>A NP_001341828.1:p.Val2218Ile
NM_001354900.2:c.6613G>A NP_001341829.1:p.Val2205Ile
NM_001354901.2:c.6559G>A NP_001341830.1:p.Val2187Ile
NM_001354902.2:c.6463G>A NP_001341831.1:p.Val2155Ile
NM_001354903.2:c.6433G>A NP_001341832.1:p.Val2145Ile
NM_001354904.2:c.6358G>A NP_001341833.1:p.Val2120Ile
NM_001354905.2:c.6256G>A NP_001341834.1:p.Val2086Ile
NM_001354906.2:c.5887G>A NP_001341835.1:p.Val1963Ile