Canonical Allele Identifier: CA2573138806
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1473822
ClinVar RCV Id: RCV003773088
dbSNP Id: rs1277365767

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707876C>G , CM000667.2:g.112707876C>G GRCh38
NC_000005.9:g.112043573C>G , CM000667.1:g.112043573C>G GRCh37
NC_000005.8:g.112071472C>G NCBI36
NG_008481.4:g.20356C>G , LRG_130:g.20356C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.159C>G ENSP00000481752.1:p.Val53=
ENST00000507379.6:c.159C>G ENSP00000423224.2:p.Val53=
ENST00000509732.6:c.-19+227C>G ENSP00000426541.2:n.-19+227C>G
ENST00000505350.1:c.159C>G ENSP00000481752.1:p.Val53=
ENST00000507379.5:c.159C>G ENSP00000423224.1:p.Val53=
ENST00000509732.5:c.-19+227C>G ENSP00000426541.1:n.-19+227C>G
NM_001127511.2:c.159C>G NP_001120983.2:p.Val53=
NM_001354895.1:c.-25C>G NP_001341824.1:n.-25C>G
NM_001354897.1:c.159C>G NP_001341826.1:p.Val53=
NM_001354902.1:c.159C>G NP_001341831.1:p.Val53=
NM_001127511.3:c.159C>G NP_001120983.2:p.Val53=
NM_001354895.2:c.-25C>G NP_001341824.1:n.-25C>G
NM_001354897.2:c.159C>G NP_001341826.1:p.Val53=
NM_001354902.2:c.159C>G NP_001341831.1:p.Val53=