Canonical Allele Identifier: CA16038663

Gene: APC

Linked Data

• ClinVar Variation Id: 3005182
• ClinVar RCV Id: RCV003868309
• MyVariant Identifiers: chr5:g.112179272A>G (hg19) ; chr5:g.112843575A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843575A>G , CM000667.2:g.112843575A>G	GRCh38
NC_000005.9:g.112179272A>G , CM000667.1:g.112179272A>G	GRCh37
NC_000005.8:g.112207171A>G	NCBI36
NG_008481.4:g.156055A>G , LRG_130:g.156055A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8035A>G	ENSP00000473355.2:p.Ile2679Val
ENST00000505350.2:c.*7987A>G	ENSP00000481752.1:n.*7987A>G
ENST00000507379.6:c.7927A>G	ENSP00000423224.2:p.Ile2643Val
ENST00000509732.6:c.7981A>G	ENSP00000426541.2:p.Ile2661Val
ENST00000512211.7:c.7981A>G	ENSP00000423828.3:p.Ile2661Val
ENST00000257430.9:c.7981A>G MANE Select	ENSP00000257430.4:p.Ile2661Val
ENST00000257430.8:c.7981A>G	ENSP00000257430.4:p.Ile2661Val
ENST00000508376.6:c.7981A>G	ENSP00000427089.2:p.Ile2661Val
ENST00000520401.1:c.231-13074A>G
NM_000038.5:c.7981A>G	NP_000029.2:p.Ile2661Val
NM_001127510.2:c.7981A>G	NP_001120982.1:p.Ile2661Val
NM_001127511.2:c.7927A>G	NP_001120983.2:p.Ile2643Val
NM_001354895.1:c.7981A>G	NP_001341824.1:p.Ile2661Val
NM_001354896.1:c.8035A>G	NP_001341825.1:p.Ile2679Val
NM_001354897.1:c.8011A>G	NP_001341826.1:p.Ile2671Val
NM_001354898.1:c.7906A>G	NP_001341827.1:p.Ile2636Val
NM_001354899.1:c.7897A>G	NP_001341828.1:p.Ile2633Val
NM_001354900.1:c.7858A>G	NP_001341829.1:p.Ile2620Val
NM_001354901.1:c.7804A>G	NP_001341830.1:p.Ile2602Val
NM_001354902.1:c.7708A>G	NP_001341831.1:p.Ile2570Val
NM_001354903.1:c.7678A>G	NP_001341832.1:p.Ile2560Val
NM_001354904.1:c.7603A>G	NP_001341833.1:p.Ile2535Val
NM_001354905.1:c.7501A>G	NP_001341834.1:p.Ile2501Val
NM_001354906.1:c.7132A>G	NP_001341835.1:p.Ile2378Val
NM_000038.6:c.7981A>G MANE Select	NP_000029.2:p.Ile2661Val
NM_001127510.3:c.7981A>G	NP_001120982.1:p.Ile2661Val
NM_001127511.3:c.7927A>G	NP_001120983.2:p.Ile2643Val
NM_001354895.2:c.7981A>G	NP_001341824.1:p.Ile2661Val
NM_001354896.2:c.8035A>G	NP_001341825.1:p.Ile2679Val
NM_001354897.2:c.8011A>G	NP_001341826.1:p.Ile2671Val
NM_001354898.2:c.7906A>G	NP_001341827.1:p.Ile2636Val
NM_001354899.2:c.7897A>G	NP_001341828.1:p.Ile2633Val
NM_001354900.2:c.7858A>G	NP_001341829.1:p.Ile2620Val
NM_001354901.2:c.7804A>G	NP_001341830.1:p.Ile2602Val
NM_001354902.2:c.7708A>G	NP_001341831.1:p.Ile2570Val
NM_001354903.2:c.7678A>G	NP_001341832.1:p.Ile2560Val
NM_001354904.2:c.7603A>G	NP_001341833.1:p.Ile2535Val
NM_001354905.2:c.7501A>G	NP_001341834.1:p.Ile2501Val
NM_001354906.2:c.7132A>G	NP_001341835.1:p.Ile2378Val