Canonical Allele Identifier: CA2573138804
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1520757
ClinVar RCV Id: RCV002548974
dbSNP Id: rs753577385

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707858T>A , CM000667.2:g.112707858T>A GRCh38
NC_000005.9:g.112043555T>A , CM000667.1:g.112043555T>A GRCh37
NC_000005.8:g.112071454T>A NCBI36
NG_008481.4:g.20338T>A , LRG_130:g.20338T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.141T>A ENSP00000481752.1:p.Ser47=
ENST00000507379.6:c.141T>A ENSP00000423224.2:p.Ser47=
ENST00000509732.6:c.-19+209T>A ENSP00000426541.2:n.-19+209T>A
ENST00000505350.1:c.141T>A ENSP00000481752.1:p.Ser47=
ENST00000507379.5:c.141T>A ENSP00000423224.1:p.Ser47=
ENST00000509732.5:c.-19+209T>A ENSP00000426541.1:n.-19+209T>A
NM_001127511.2:c.141T>A NP_001120983.2:p.Ser47=
NM_001354895.1:c.-43T>A NP_001341824.1:n.-43T>A
NM_001354897.1:c.141T>A NP_001341826.1:p.Ser47=
NM_001354902.1:c.141T>A NP_001341831.1:p.Ser47=
NM_001127511.3:c.141T>A NP_001120983.2:p.Ser47=
NM_001354895.2:c.-43T>A NP_001341824.1:n.-43T>A
NM_001354897.2:c.141T>A NP_001341826.1:p.Ser47=
NM_001354902.2:c.141T>A NP_001341831.1:p.Ser47=