Canonical Allele Identifier: CA16038237
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2676989
ClinVar RCV Id: RCV003463101
dbSNP Id: rs1766566927

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112843377A>C , CM000667.2:g.112843377A>C GRCh38
NC_000005.9:g.112179074A>C , CM000667.1:g.112179074A>C GRCh37
NC_000005.8:g.112206973A>C NCBI36
NG_008481.4:g.155857A>C , LRG_130:g.155857A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7837A>C ENSP00000473355.2:p.Ile2613Leu
ENST00000505350.2:c.*7789A>C ENSP00000481752.1:n.*7789A>C
ENST00000507379.6:c.7729A>C ENSP00000423224.2:p.Ile2577Leu
ENST00000509732.6:c.7783A>C ENSP00000426541.2:p.Ile2595Leu
ENST00000512211.7:c.7783A>C ENSP00000423828.3:p.Ile2595Leu
ENST00000257430.9:c.7783A>C MANE Select ENSP00000257430.4:p.Ile2595Leu
ENST00000257430.8:c.7783A>C ENSP00000257430.4:p.Ile2595Leu
ENST00000508376.6:c.7783A>C ENSP00000427089.2:p.Ile2595Leu
ENST00000520401.1:c.231-13272A>C
NM_000038.5:c.7783A>C NP_000029.2:p.Ile2595Leu
NM_001127510.2:c.7783A>C NP_001120982.1:p.Ile2595Leu
NM_001127511.2:c.7729A>C NP_001120983.2:p.Ile2577Leu
NM_001354895.1:c.7783A>C NP_001341824.1:p.Ile2595Leu
NM_001354896.1:c.7837A>C NP_001341825.1:p.Ile2613Leu
NM_001354897.1:c.7813A>C NP_001341826.1:p.Ile2605Leu
NM_001354898.1:c.7708A>C NP_001341827.1:p.Ile2570Leu
NM_001354899.1:c.7699A>C NP_001341828.1:p.Ile2567Leu
NM_001354900.1:c.7660A>C NP_001341829.1:p.Ile2554Leu
NM_001354901.1:c.7606A>C NP_001341830.1:p.Ile2536Leu
NM_001354902.1:c.7510A>C NP_001341831.1:p.Ile2504Leu
NM_001354903.1:c.7480A>C NP_001341832.1:p.Ile2494Leu
NM_001354904.1:c.7405A>C NP_001341833.1:p.Ile2469Leu
NM_001354905.1:c.7303A>C NP_001341834.1:p.Ile2435Leu
NM_001354906.1:c.6934A>C NP_001341835.1:p.Ile2312Leu
NM_000038.6:c.7783A>C MANE Select NP_000029.2:p.Ile2595Leu
NM_001127510.3:c.7783A>C NP_001120982.1:p.Ile2595Leu
NM_001127511.3:c.7729A>C NP_001120983.2:p.Ile2577Leu
NM_001354895.2:c.7783A>C NP_001341824.1:p.Ile2595Leu
NM_001354896.2:c.7837A>C NP_001341825.1:p.Ile2613Leu
NM_001354897.2:c.7813A>C NP_001341826.1:p.Ile2605Leu
NM_001354898.2:c.7708A>C NP_001341827.1:p.Ile2570Leu
NM_001354899.2:c.7699A>C NP_001341828.1:p.Ile2567Leu
NM_001354900.2:c.7660A>C NP_001341829.1:p.Ile2554Leu
NM_001354901.2:c.7606A>C NP_001341830.1:p.Ile2536Leu
NM_001354902.2:c.7510A>C NP_001341831.1:p.Ile2504Leu
NM_001354903.2:c.7480A>C NP_001341832.1:p.Ile2494Leu
NM_001354904.2:c.7405A>C NP_001341833.1:p.Ile2469Leu
NM_001354905.2:c.7303A>C NP_001341834.1:p.Ile2435Leu
NM_001354906.2:c.6934A>C NP_001341835.1:p.Ile2312Leu