Canonical Allele Identifier: CA446206696
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1142955
ClinVar RCV Id: RCV003538795
dbSNP Id: rs2149922252
MyVariant Identifiers: chr5:g.112176019A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840322A>G , CM000667.2:g.112840322A>G GRCh38
NC_000005.9:g.112176019A>G , CM000667.1:g.112176019A>G GRCh37
NC_000005.8:g.112203918A>G NCBI36
NG_008481.4:g.152802A>G , LRG_130:g.152802A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.4782A>G ENSP00000473355.2:p.Glu1594=
ENST00000505350.2:c.*4734A>G ENSP00000481752.1:n.*4734A>G
ENST00000507379.6:c.4674A>G ENSP00000423224.2:p.Glu1558=
ENST00000509732.6:c.4728A>G ENSP00000426541.2:p.Glu1576=
ENST00000512211.7:c.4728A>G ENSP00000423828.3:p.Glu1576=
ENST00000257430.9:c.4728A>G MANE Select ENSP00000257430.4:p.Glu1576=
ENST00000257430.8:c.4728A>G ENSP00000257430.4:p.Glu1576=
ENST00000508376.6:c.4728A>G ENSP00000427089.2:p.Glu1576=
ENST00000508624.5:c.*4050A>G ENSP00000424265.1:n.*4050A>G
ENST00000520401.1:c.230+11350A>G
NM_000038.5:c.4728A>G NP_000029.2:p.Glu1576=
NM_001127510.2:c.4728A>G NP_001120982.1:p.Glu1576=
NM_001127511.2:c.4674A>G NP_001120983.2:p.Glu1558=
NM_001354895.1:c.4728A>G NP_001341824.1:p.Glu1576=
NM_001354896.1:c.4782A>G NP_001341825.1:p.Glu1594=
NM_001354897.1:c.4758A>G NP_001341826.1:p.Glu1586=
NM_001354898.1:c.4653A>G NP_001341827.1:p.Glu1551=
NM_001354899.1:c.4644A>G NP_001341828.1:p.Glu1548=
NM_001354900.1:c.4605A>G NP_001341829.1:p.Glu1535=
NM_001354901.1:c.4551A>G NP_001341830.1:p.Glu1517=
NM_001354902.1:c.4455A>G NP_001341831.1:p.Glu1485=
NM_001354903.1:c.4425A>G NP_001341832.1:p.Glu1475=
NM_001354904.1:c.4350A>G NP_001341833.1:p.Glu1450=
NM_001354905.1:c.4248A>G NP_001341834.1:p.Glu1416=
NM_001354906.1:c.3879A>G NP_001341835.1:p.Glu1293=
NM_000038.6:c.4728A>G MANE Select NP_000029.2:p.Glu1576=
NM_001127510.3:c.4728A>G NP_001120982.1:p.Glu1576=
NM_001127511.3:c.4674A>G NP_001120983.2:p.Glu1558=
NM_001354895.2:c.4728A>G NP_001341824.1:p.Glu1576=
NM_001354896.2:c.4782A>G NP_001341825.1:p.Glu1594=
NM_001354897.2:c.4758A>G NP_001341826.1:p.Glu1586=
NM_001354898.2:c.4653A>G NP_001341827.1:p.Glu1551=
NM_001354899.2:c.4644A>G NP_001341828.1:p.Glu1548=
NM_001354900.2:c.4605A>G NP_001341829.1:p.Glu1535=
NM_001354901.2:c.4551A>G NP_001341830.1:p.Glu1517=
NM_001354902.2:c.4455A>G NP_001341831.1:p.Glu1485=
NM_001354903.2:c.4425A>G NP_001341832.1:p.Glu1475=
NM_001354904.2:c.4350A>G NP_001341833.1:p.Glu1450=
NM_001354905.2:c.4248A>G NP_001341834.1:p.Glu1416=
NM_001354906.2:c.3879A>G NP_001341835.1:p.Glu1293=