Canonical Allele Identifier: CA16038238

Gene: APC

Linked Data

• ClinVar Variation Id: 1760611
• ClinVar RCV Id: RCV002409830 ; RCV004005756
• dbSNP Id: rs1766566927
• MyVariant Identifiers: chr5:g.112179074A>G (hg19) ; chr5:g.112843377A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7837A>G	ENSP00000473355.2:p.Ile2613Val
ENST00000505350.2:c.*7789A>G	ENSP00000481752.1:n.*7789A>G
ENST00000507379.6:c.7729A>G	ENSP00000423224.2:p.Ile2577Val
ENST00000509732.6:c.7783A>G	ENSP00000426541.2:p.Ile2595Val
ENST00000512211.7:c.7783A>G	ENSP00000423828.3:p.Ile2595Val
ENST00000257430.9:c.7783A>G MANE Select	ENSP00000257430.4:p.Ile2595Val
ENST00000257430.8:c.7783A>G	ENSP00000257430.4:p.Ile2595Val
ENST00000508376.6:c.7783A>G	ENSP00000427089.2:p.Ile2595Val
ENST00000520401.1:c.231-13272A>G
NM_000038.5:c.7783A>G	NP_000029.2:p.Ile2595Val
NM_001127510.2:c.7783A>G	NP_001120982.1:p.Ile2595Val
NM_001127511.2:c.7729A>G	NP_001120983.2:p.Ile2577Val
NM_001354895.1:c.7783A>G	NP_001341824.1:p.Ile2595Val
NM_001354896.1:c.7837A>G	NP_001341825.1:p.Ile2613Val
NM_001354897.1:c.7813A>G	NP_001341826.1:p.Ile2605Val
NM_001354898.1:c.7708A>G	NP_001341827.1:p.Ile2570Val
NM_001354899.1:c.7699A>G	NP_001341828.1:p.Ile2567Val
NM_001354900.1:c.7660A>G	NP_001341829.1:p.Ile2554Val
NM_001354901.1:c.7606A>G	NP_001341830.1:p.Ile2536Val
NM_001354902.1:c.7510A>G	NP_001341831.1:p.Ile2504Val
NM_001354903.1:c.7480A>G	NP_001341832.1:p.Ile2494Val
NM_001354904.1:c.7405A>G	NP_001341833.1:p.Ile2469Val
NM_001354905.1:c.7303A>G	NP_001341834.1:p.Ile2435Val
NM_001354906.1:c.6934A>G	NP_001341835.1:p.Ile2312Val
NM_000038.6:c.7783A>G MANE Select	NP_000029.2:p.Ile2595Val
NM_001127510.3:c.7783A>G	NP_001120982.1:p.Ile2595Val
NM_001127511.3:c.7729A>G	NP_001120983.2:p.Ile2577Val
NM_001354895.2:c.7783A>G	NP_001341824.1:p.Ile2595Val
NM_001354896.2:c.7837A>G	NP_001341825.1:p.Ile2613Val
NM_001354897.2:c.7813A>G	NP_001341826.1:p.Ile2605Val
NM_001354898.2:c.7708A>G	NP_001341827.1:p.Ile2570Val
NM_001354899.2:c.7699A>G	NP_001341828.1:p.Ile2567Val
NM_001354900.2:c.7660A>G	NP_001341829.1:p.Ile2554Val
NM_001354901.2:c.7606A>G	NP_001341830.1:p.Ile2536Val
NM_001354902.2:c.7510A>G	NP_001341831.1:p.Ile2504Val
NM_001354903.2:c.7480A>G	NP_001341832.1:p.Ile2494Val
NM_001354904.2:c.7405A>G	NP_001341833.1:p.Ile2469Val
NM_001354905.2:c.7303A>G	NP_001341834.1:p.Ile2435Val
NM_001354906.2:c.6934A>G	NP_001341835.1:p.Ile2312Val