Canonical Allele Identifier: CA446210106
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 826860
ClinVar RCV Id: RCV001026075
dbSNP Id: rs1580678936
MyVariant Identifiers: chr5:g.112178422C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112842725C>T , CM000667.2:g.112842725C>T GRCh38
NC_000005.9:g.112178422C>T , CM000667.1:g.112178422C>T GRCh37
NC_000005.8:g.112206321C>T NCBI36
NG_008481.4:g.155205C>T , LRG_130:g.155205C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.7185C>T ENSP00000473355.2:p.Asn2395=
ENST00000505350.2:c.*7137C>T ENSP00000481752.1:n.*7137C>T
ENST00000507379.6:c.7077C>T ENSP00000423224.2:p.Asn2359=
ENST00000509732.6:c.7131C>T ENSP00000426541.2:p.Asn2377=
ENST00000512211.7:c.7131C>T ENSP00000423828.3:p.Asn2377=
ENST00000257430.9:c.7131C>T MANE Select ENSP00000257430.4:p.Asn2377=
ENST00000257430.8:c.7131C>T ENSP00000257430.4:p.Asn2377=
ENST00000508376.6:c.7131C>T ENSP00000427089.2:p.Asn2377=
ENST00000508624.5:c.*6453C>T ENSP00000424265.1:n.*6453C>T
ENST00000520401.1:c.230+13753C>T
NM_000038.5:c.7131C>T NP_000029.2:p.Asn2377=
NM_001127510.2:c.7131C>T NP_001120982.1:p.Asn2377=
NM_001127511.2:c.7077C>T NP_001120983.2:p.Asn2359=
NM_001354895.1:c.7131C>T NP_001341824.1:p.Asn2377=
NM_001354896.1:c.7185C>T NP_001341825.1:p.Asn2395=
NM_001354897.1:c.7161C>T NP_001341826.1:p.Asn2387=
NM_001354898.1:c.7056C>T NP_001341827.1:p.Asn2352=
NM_001354899.1:c.7047C>T NP_001341828.1:p.Asn2349=
NM_001354900.1:c.7008C>T NP_001341829.1:p.Asn2336=
NM_001354901.1:c.6954C>T NP_001341830.1:p.Asn2318=
NM_001354902.1:c.6858C>T NP_001341831.1:p.Asn2286=
NM_001354903.1:c.6828C>T NP_001341832.1:p.Asn2276=
NM_001354904.1:c.6753C>T NP_001341833.1:p.Asn2251=
NM_001354905.1:c.6651C>T NP_001341834.1:p.Asn2217=
NM_001354906.1:c.6282C>T NP_001341835.1:p.Asn2094=
NM_000038.6:c.7131C>T MANE Select NP_000029.2:p.Asn2377=
NM_001127510.3:c.7131C>T NP_001120982.1:p.Asn2377=
NM_001127511.3:c.7077C>T NP_001120983.2:p.Asn2359=
NM_001354895.2:c.7131C>T NP_001341824.1:p.Asn2377=
NM_001354896.2:c.7185C>T NP_001341825.1:p.Asn2395=
NM_001354897.2:c.7161C>T NP_001341826.1:p.Asn2387=
NM_001354898.2:c.7056C>T NP_001341827.1:p.Asn2352=
NM_001354899.2:c.7047C>T NP_001341828.1:p.Asn2349=
NM_001354900.2:c.7008C>T NP_001341829.1:p.Asn2336=
NM_001354901.2:c.6954C>T NP_001341830.1:p.Asn2318=
NM_001354902.2:c.6858C>T NP_001341831.1:p.Asn2286=
NM_001354903.2:c.6828C>T NP_001341832.1:p.Asn2276=
NM_001354904.2:c.6753C>T NP_001341833.1:p.Asn2251=
NM_001354905.2:c.6651C>T NP_001341834.1:p.Asn2217=
NM_001354906.2:c.6282C>T NP_001341835.1:p.Asn2094=