Canonical Allele Identifier: CA16037035

Gene: APC

Linked Data

• dbSNP Id: rs864622246
• MyVariant Identifiers: chr5:g.112178502T>G (hg19) ; chr5:g.112842805T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842805T>G , CM000667.2:g.112842805T>G	GRCh38
NC_000005.9:g.112178502T>G , CM000667.1:g.112178502T>G	GRCh37
NC_000005.8:g.112206401T>G	NCBI36
NG_008481.4:g.155285T>G , LRG_130:g.155285T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7265T>G	ENSP00000473355.2:p.Met2422Arg
ENST00000505350.2:c.*7217T>G	ENSP00000481752.1:n.*7217T>G
ENST00000507379.6:c.7157T>G	ENSP00000423224.2:p.Met2386Arg
ENST00000509732.6:c.7211T>G	ENSP00000426541.2:p.Met2404Arg
ENST00000512211.7:c.7211T>G	ENSP00000423828.3:p.Met2404Arg
ENST00000257430.9:c.7211T>G MANE Select	ENSP00000257430.4:p.Met2404Arg
ENST00000257430.8:c.7211T>G	ENSP00000257430.4:p.Met2404Arg
ENST00000508376.6:c.7211T>G	ENSP00000427089.2:p.Met2404Arg
ENST00000520401.1:c.230+13833T>G
NM_000038.5:c.7211T>G	NP_000029.2:p.Met2404Arg
NM_001127510.2:c.7211T>G	NP_001120982.1:p.Met2404Arg
NM_001127511.2:c.7157T>G	NP_001120983.2:p.Met2386Arg
NM_001354895.1:c.7211T>G	NP_001341824.1:p.Met2404Arg
NM_001354896.1:c.7265T>G	NP_001341825.1:p.Met2422Arg
NM_001354897.1:c.7241T>G	NP_001341826.1:p.Met2414Arg
NM_001354898.1:c.7136T>G	NP_001341827.1:p.Met2379Arg
NM_001354899.1:c.7127T>G	NP_001341828.1:p.Met2376Arg
NM_001354900.1:c.7088T>G	NP_001341829.1:p.Met2363Arg
NM_001354901.1:c.7034T>G	NP_001341830.1:p.Met2345Arg
NM_001354902.1:c.6938T>G	NP_001341831.1:p.Met2313Arg
NM_001354903.1:c.6908T>G	NP_001341832.1:p.Met2303Arg
NM_001354904.1:c.6833T>G	NP_001341833.1:p.Met2278Arg
NM_001354905.1:c.6731T>G	NP_001341834.1:p.Met2244Arg
NM_001354906.1:c.6362T>G	NP_001341835.1:p.Met2121Arg
NM_000038.6:c.7211T>G MANE Select	NP_000029.2:p.Met2404Arg
NM_001127510.3:c.7211T>G	NP_001120982.1:p.Met2404Arg
NM_001127511.3:c.7157T>G	NP_001120983.2:p.Met2386Arg
NM_001354895.2:c.7211T>G	NP_001341824.1:p.Met2404Arg
NM_001354896.2:c.7265T>G	NP_001341825.1:p.Met2422Arg
NM_001354897.2:c.7241T>G	NP_001341826.1:p.Met2414Arg
NM_001354898.2:c.7136T>G	NP_001341827.1:p.Met2379Arg
NM_001354899.2:c.7127T>G	NP_001341828.1:p.Met2376Arg
NM_001354900.2:c.7088T>G	NP_001341829.1:p.Met2363Arg
NM_001354901.2:c.7034T>G	NP_001341830.1:p.Met2345Arg
NM_001354902.2:c.6938T>G	NP_001341831.1:p.Met2313Arg
NM_001354903.2:c.6908T>G	NP_001341832.1:p.Met2303Arg
NM_001354904.2:c.6833T>G	NP_001341833.1:p.Met2278Arg
NM_001354905.2:c.6731T>G	NP_001341834.1:p.Met2244Arg
NM_001354906.2:c.6362T>G	NP_001341835.1:p.Met2121Arg