Canonical Allele Identifier: CA2580072338
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 2138904
ClinVar RCV Id: RCV003534929
dbSNP Id: rs1750614449

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707846C>G , CM000667.2:g.112707846C>G GRCh38
NC_000005.9:g.112043543C>G , CM000667.1:g.112043543C>G GRCh37
NC_000005.8:g.112071442C>G NCBI36
NG_008481.4:g.20326C>G , LRG_130:g.20326C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.129C>G ENSP00000481752.1:p.Gly43=
ENST00000507379.6:c.129C>G ENSP00000423224.2:p.Gly43=
ENST00000509732.6:c.-19+197C>G ENSP00000426541.2:n.-19+197C>G
ENST00000505350.1:c.129C>G ENSP00000481752.1:p.Gly43=
ENST00000507379.5:c.129C>G ENSP00000423224.1:p.Gly43=
ENST00000509732.5:c.-19+197C>G ENSP00000426541.1:n.-19+197C>G
NM_001127511.2:c.129C>G NP_001120983.2:p.Gly43=
NM_001354895.1:c.-55C>G NP_001341824.1:n.-55C>G
NM_001354897.1:c.129C>G NP_001341826.1:p.Gly43=
NM_001354902.1:c.129C>G NP_001341831.1:p.Gly43=
NM_001127511.3:c.129C>G NP_001120983.2:p.Gly43=
NM_001354895.2:c.-55C>G NP_001341824.1:n.-55C>G
NM_001354897.2:c.129C>G NP_001341826.1:p.Gly43=
NM_001354902.2:c.129C>G NP_001341831.1:p.Gly43=