Canonical Allele Identifier: CA446209567
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1647530
ClinVar RCV Id: RCV003773972
dbSNP Id: rs1554086438
MyVariant Identifiers: chr5:g.112176376A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840679A>G , CM000667.2:g.112840679A>G GRCh38
NC_000005.9:g.112176376A>G , CM000667.1:g.112176376A>G GRCh37
NC_000005.8:g.112204275A>G NCBI36
NG_008481.4:g.153159A>G , LRG_130:g.153159A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5139A>G ENSP00000473355.2:p.Arg1713=
ENST00000505350.2:c.*5091A>G ENSP00000481752.1:n.*5091A>G
ENST00000507379.6:c.5031A>G ENSP00000423224.2:p.Arg1677=
ENST00000509732.6:c.5085A>G ENSP00000426541.2:p.Arg1695=
ENST00000512211.7:c.5085A>G ENSP00000423828.3:p.Arg1695=
ENST00000257430.9:c.5085A>G MANE Select ENSP00000257430.4:p.Arg1695=
ENST00000257430.8:c.5085A>G ENSP00000257430.4:p.Arg1695=
ENST00000508376.6:c.5085A>G ENSP00000427089.2:p.Arg1695=
ENST00000508624.5:c.*4407A>G ENSP00000424265.1:n.*4407A>G
ENST00000520401.1:c.230+11707A>G
NM_000038.5:c.5085A>G NP_000029.2:p.Arg1695=
NM_001127510.2:c.5085A>G NP_001120982.1:p.Arg1695=
NM_001127511.2:c.5031A>G NP_001120983.2:p.Arg1677=
NM_001354895.1:c.5085A>G NP_001341824.1:p.Arg1695=
NM_001354896.1:c.5139A>G NP_001341825.1:p.Arg1713=
NM_001354897.1:c.5115A>G NP_001341826.1:p.Arg1705=
NM_001354898.1:c.5010A>G NP_001341827.1:p.Arg1670=
NM_001354899.1:c.5001A>G NP_001341828.1:p.Arg1667=
NM_001354900.1:c.4962A>G NP_001341829.1:p.Arg1654=
NM_001354901.1:c.4908A>G NP_001341830.1:p.Arg1636=
NM_001354902.1:c.4812A>G NP_001341831.1:p.Arg1604=
NM_001354903.1:c.4782A>G NP_001341832.1:p.Arg1594=
NM_001354904.1:c.4707A>G NP_001341833.1:p.Arg1569=
NM_001354905.1:c.4605A>G NP_001341834.1:p.Arg1535=
NM_001354906.1:c.4236A>G NP_001341835.1:p.Arg1412=
NM_000038.6:c.5085A>G MANE Select NP_000029.2:p.Arg1695=
NM_001127510.3:c.5085A>G NP_001120982.1:p.Arg1695=
NM_001127511.3:c.5031A>G NP_001120983.2:p.Arg1677=
NM_001354895.2:c.5085A>G NP_001341824.1:p.Arg1695=
NM_001354896.2:c.5139A>G NP_001341825.1:p.Arg1713=
NM_001354897.2:c.5115A>G NP_001341826.1:p.Arg1705=
NM_001354898.2:c.5010A>G NP_001341827.1:p.Arg1670=
NM_001354899.2:c.5001A>G NP_001341828.1:p.Arg1667=
NM_001354900.2:c.4962A>G NP_001341829.1:p.Arg1654=
NM_001354901.2:c.4908A>G NP_001341830.1:p.Arg1636=
NM_001354902.2:c.4812A>G NP_001341831.1:p.Arg1604=
NM_001354903.2:c.4782A>G NP_001341832.1:p.Arg1594=
NM_001354904.2:c.4707A>G NP_001341833.1:p.Arg1569=
NM_001354905.2:c.4605A>G NP_001341834.1:p.Arg1535=
NM_001354906.2:c.4236A>G NP_001341835.1:p.Arg1412=