Canonical Allele Identifier: CA16037587

Gene: APC

Linked Data

• ClinVar Variation Id: 482396
• ClinVar RCV Id: RCV000569767 ; RCV003537148
• dbSNP Id: rs1554088389
• gnomAD v4: 5-112843067-G-A
• MyVariant Identifiers: chr5:g.112178764G>A (hg19) ; chr5:g.112843067G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843067G>A , CM000667.2:g.112843067G>A	GRCh38
NC_000005.9:g.112178764G>A , CM000667.1:g.112178764G>A	GRCh37
NC_000005.8:g.112206663G>A	NCBI36
NG_008481.4:g.155547G>A , LRG_130:g.155547G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7527G>A	ENSP00000473355.2:p.Met2509Ile
ENST00000505350.2:c.*7479G>A	ENSP00000481752.1:n.*7479G>A
ENST00000507379.6:c.7419G>A	ENSP00000423224.2:p.Met2473Ile
ENST00000509732.6:c.7473G>A	ENSP00000426541.2:p.Met2491Ile
ENST00000512211.7:c.7473G>A	ENSP00000423828.3:p.Met2491Ile
ENST00000257430.9:c.7473G>A MANE Select	ENSP00000257430.4:p.Met2491Ile
ENST00000257430.8:c.7473G>A	ENSP00000257430.4:p.Met2491Ile
ENST00000508376.6:c.7473G>A	ENSP00000427089.2:p.Met2491Ile
ENST00000520401.1:c.231-13582G>A
NM_000038.5:c.7473G>A	NP_000029.2:p.Met2491Ile
NM_001127510.2:c.7473G>A	NP_001120982.1:p.Met2491Ile
NM_001127511.2:c.7419G>A	NP_001120983.2:p.Met2473Ile
NM_001354895.1:c.7473G>A	NP_001341824.1:p.Met2491Ile
NM_001354896.1:c.7527G>A	NP_001341825.1:p.Met2509Ile
NM_001354897.1:c.7503G>A	NP_001341826.1:p.Met2501Ile
NM_001354898.1:c.7398G>A	NP_001341827.1:p.Met2466Ile
NM_001354899.1:c.7389G>A	NP_001341828.1:p.Met2463Ile
NM_001354900.1:c.7350G>A	NP_001341829.1:p.Met2450Ile
NM_001354901.1:c.7296G>A	NP_001341830.1:p.Met2432Ile
NM_001354902.1:c.7200G>A	NP_001341831.1:p.Met2400Ile
NM_001354903.1:c.7170G>A	NP_001341832.1:p.Met2390Ile
NM_001354904.1:c.7095G>A	NP_001341833.1:p.Met2365Ile
NM_001354905.1:c.6993G>A	NP_001341834.1:p.Met2331Ile
NM_001354906.1:c.6624G>A	NP_001341835.1:p.Met2208Ile
NM_000038.6:c.7473G>A MANE Select	NP_000029.2:p.Met2491Ile
NM_001127510.3:c.7473G>A	NP_001120982.1:p.Met2491Ile
NM_001127511.3:c.7419G>A	NP_001120983.2:p.Met2473Ile
NM_001354895.2:c.7473G>A	NP_001341824.1:p.Met2491Ile
NM_001354896.2:c.7527G>A	NP_001341825.1:p.Met2509Ile
NM_001354897.2:c.7503G>A	NP_001341826.1:p.Met2501Ile
NM_001354898.2:c.7398G>A	NP_001341827.1:p.Met2466Ile
NM_001354899.2:c.7389G>A	NP_001341828.1:p.Met2463Ile
NM_001354900.2:c.7350G>A	NP_001341829.1:p.Met2450Ile
NM_001354901.2:c.7296G>A	NP_001341830.1:p.Met2432Ile
NM_001354902.2:c.7200G>A	NP_001341831.1:p.Met2400Ile
NM_001354903.2:c.7170G>A	NP_001341832.1:p.Met2390Ile
NM_001354904.2:c.7095G>A	NP_001341833.1:p.Met2365Ile
NM_001354905.2:c.6993G>A	NP_001341834.1:p.Met2331Ile
NM_001354906.2:c.6624G>A	NP_001341835.1:p.Met2208Ile