Canonical Allele Identifier: CA046864

Gene: APC

Linked Data

• ClinVar Variation Id: 2082323
• ClinVar RCV Id: RCV003534924
• dbSNP Id: rs768929466
• ExAC: 5:112178381 A / G
• gnomAD v2: 5-112178381-A-G
• gnomAD v4: 5-112842684-A-G
• MyVariant Identifiers: chr5:g.112178381A>G (hg19) ; chr5:g.112842684A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842684A>G , CM000667.2:g.112842684A>G	GRCh38
NC_000005.9:g.112178381A>G , CM000667.1:g.112178381A>G	GRCh37
NC_000005.8:g.112206280A>G	NCBI36
NG_008481.4:g.155164A>G , LRG_130:g.155164A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7144A>G	ENSP00000473355.2:p.Met2382Val
ENST00000505350.2:c.*7096A>G	ENSP00000481752.1:n.*7096A>G
ENST00000507379.6:c.7036A>G	ENSP00000423224.2:p.Met2346Val
ENST00000509732.6:c.7090A>G	ENSP00000426541.2:p.Met2364Val
ENST00000512211.7:c.7090A>G	ENSP00000423828.3:p.Met2364Val
ENST00000257430.9:c.7090A>G MANE Select	ENSP00000257430.4:p.Met2364Val
ENST00000257430.8:c.7090A>G	ENSP00000257430.4:p.Met2364Val
ENST00000508376.6:c.7090A>G	ENSP00000427089.2:p.Met2364Val
ENST00000508624.5:c.*6412A>G	ENSP00000424265.1:n.*6412A>G
ENST00000520401.1:c.230+13712A>G
NM_000038.5:c.7090A>G	NP_000029.2:p.Met2364Val
NM_001127510.2:c.7090A>G	NP_001120982.1:p.Met2364Val
NM_001127511.2:c.7036A>G	NP_001120983.2:p.Met2346Val
NM_001354895.1:c.7090A>G	NP_001341824.1:p.Met2364Val
NM_001354896.1:c.7144A>G	NP_001341825.1:p.Met2382Val
NM_001354897.1:c.7120A>G	NP_001341826.1:p.Met2374Val
NM_001354898.1:c.7015A>G	NP_001341827.1:p.Met2339Val
NM_001354899.1:c.7006A>G	NP_001341828.1:p.Met2336Val
NM_001354900.1:c.6967A>G	NP_001341829.1:p.Met2323Val
NM_001354901.1:c.6913A>G	NP_001341830.1:p.Met2305Val
NM_001354902.1:c.6817A>G	NP_001341831.1:p.Met2273Val
NM_001354903.1:c.6787A>G	NP_001341832.1:p.Met2263Val
NM_001354904.1:c.6712A>G	NP_001341833.1:p.Met2238Val
NM_001354905.1:c.6610A>G	NP_001341834.1:p.Met2204Val
NM_001354906.1:c.6241A>G	NP_001341835.1:p.Met2081Val
NM_000038.6:c.7090A>G MANE Select	NP_000029.2:p.Met2364Val
NM_001127510.3:c.7090A>G	NP_001120982.1:p.Met2364Val
NM_001127511.3:c.7036A>G	NP_001120983.2:p.Met2346Val
NM_001354895.2:c.7090A>G	NP_001341824.1:p.Met2364Val
NM_001354896.2:c.7144A>G	NP_001341825.1:p.Met2382Val
NM_001354897.2:c.7120A>G	NP_001341826.1:p.Met2374Val
NM_001354898.2:c.7015A>G	NP_001341827.1:p.Met2339Val
NM_001354899.2:c.7006A>G	NP_001341828.1:p.Met2336Val
NM_001354900.2:c.6967A>G	NP_001341829.1:p.Met2323Val
NM_001354901.2:c.6913A>G	NP_001341830.1:p.Met2305Val
NM_001354902.2:c.6817A>G	NP_001341831.1:p.Met2273Val
NM_001354903.2:c.6787A>G	NP_001341832.1:p.Met2263Val
NM_001354904.2:c.6712A>G	NP_001341833.1:p.Met2238Val
NM_001354905.2:c.6610A>G	NP_001341834.1:p.Met2204Val
NM_001354906.2:c.6241A>G	NP_001341835.1:p.Met2081Val