Canonical Allele Identifier: CA16036517

Gene: APC

Linked Data

• ClinVar Variation Id: 573421
• ClinVar RCV Id: RCV003303145 ; RCV003534633
• dbSNP Id: rs1561611578
• gnomAD v4: 5-112842557-A-G
• MyVariant Identifiers: chr5:g.112178254A>G (hg19) ; chr5:g.112842557A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842557A>G , CM000667.2:g.112842557A>G	GRCh38
NC_000005.9:g.112178254A>G , CM000667.1:g.112178254A>G	GRCh37
NC_000005.8:g.112206153A>G	NCBI36
NG_008481.4:g.155037A>G , LRG_130:g.155037A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7017A>G	ENSP00000473355.2:p.Ile2339Met
ENST00000505350.2:c.*6969A>G	ENSP00000481752.1:n.*6969A>G
ENST00000507379.6:c.6909A>G	ENSP00000423224.2:p.Ile2303Met
ENST00000509732.6:c.6963A>G	ENSP00000426541.2:p.Ile2321Met
ENST00000512211.7:c.6963A>G	ENSP00000423828.3:p.Ile2321Met
ENST00000257430.9:c.6963A>G MANE Select	ENSP00000257430.4:p.Ile2321Met
ENST00000257430.8:c.6963A>G	ENSP00000257430.4:p.Ile2321Met
ENST00000508376.6:c.6963A>G	ENSP00000427089.2:p.Ile2321Met
ENST00000508624.5:c.*6285A>G	ENSP00000424265.1:n.*6285A>G
ENST00000520401.1:c.230+13585A>G
NM_000038.5:c.6963A>G	NP_000029.2:p.Ile2321Met
NM_001127510.2:c.6963A>G	NP_001120982.1:p.Ile2321Met
NM_001127511.2:c.6909A>G	NP_001120983.2:p.Ile2303Met
NM_001354895.1:c.6963A>G	NP_001341824.1:p.Ile2321Met
NM_001354896.1:c.7017A>G	NP_001341825.1:p.Ile2339Met
NM_001354897.1:c.6993A>G	NP_001341826.1:p.Ile2331Met
NM_001354898.1:c.6888A>G	NP_001341827.1:p.Ile2296Met
NM_001354899.1:c.6879A>G	NP_001341828.1:p.Ile2293Met
NM_001354900.1:c.6840A>G	NP_001341829.1:p.Ile2280Met
NM_001354901.1:c.6786A>G	NP_001341830.1:p.Ile2262Met
NM_001354902.1:c.6690A>G	NP_001341831.1:p.Ile2230Met
NM_001354903.1:c.6660A>G	NP_001341832.1:p.Ile2220Met
NM_001354904.1:c.6585A>G	NP_001341833.1:p.Ile2195Met
NM_001354905.1:c.6483A>G	NP_001341834.1:p.Ile2161Met
NM_001354906.1:c.6114A>G	NP_001341835.1:p.Ile2038Met
NM_000038.6:c.6963A>G MANE Select	NP_000029.2:p.Ile2321Met
NM_001127510.3:c.6963A>G	NP_001120982.1:p.Ile2321Met
NM_001127511.3:c.6909A>G	NP_001120983.2:p.Ile2303Met
NM_001354895.2:c.6963A>G	NP_001341824.1:p.Ile2321Met
NM_001354896.2:c.7017A>G	NP_001341825.1:p.Ile2339Met
NM_001354897.2:c.6993A>G	NP_001341826.1:p.Ile2331Met
NM_001354898.2:c.6888A>G	NP_001341827.1:p.Ile2296Met
NM_001354899.2:c.6879A>G	NP_001341828.1:p.Ile2293Met
NM_001354900.2:c.6840A>G	NP_001341829.1:p.Ile2280Met
NM_001354901.2:c.6786A>G	NP_001341830.1:p.Ile2262Met
NM_001354902.2:c.6690A>G	NP_001341831.1:p.Ile2230Met
NM_001354903.2:c.6660A>G	NP_001341832.1:p.Ile2220Met
NM_001354904.2:c.6585A>G	NP_001341833.1:p.Ile2195Met
NM_001354905.2:c.6483A>G	NP_001341834.1:p.Ile2161Met
NM_001354906.2:c.6114A>G	NP_001341835.1:p.Ile2038Met