Canonical Allele Identifier: CA2580072319
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1916352
ClinVar RCV Id: RCV003776647
dbSNP Id: rs78429131

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112707687T>A , CM000667.2:g.112707687T>A GRCh38
NC_000005.9:g.112043384T>A , CM000667.1:g.112043384T>A GRCh37
NC_000005.8:g.112071283T>A NCBI36
NG_008481.4:g.20167T>A , LRG_130:g.20167T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000505350.2:c.-31T>A ENSP00000481752.1:n.-31T>A
ENST00000507379.6:c.-31T>A ENSP00000423224.2:n.-31T>A
ENST00000509732.6:c.-19+38T>A ENSP00000426541.2:n.-19+38T>A
ENST00000505350.1:c.-31T>A ENSP00000481752.1:n.-31T>A
ENST00000507379.5:c.-31T>A ENSP00000423224.1:n.-31T>A
ENST00000509732.5:c.-19+38T>A ENSP00000426541.1:n.-19+38T>A
NM_001127511.2:c.-31T>A NP_001120983.2:n.-31T>A
NM_001354895.1:c.-214T>A NP_001341824.1:n.-214T>A
NM_001354897.1:c.-31T>A NP_001341826.1:n.-31T>A
NM_001354902.1:c.-31T>A NP_001341831.1:n.-31T>A
NM_001127511.3:c.-31T>A NP_001120983.2:n.-31T>A
NM_001354895.2:c.-214T>A NP_001341824.1:n.-214T>A
NM_001354897.2:c.-31T>A NP_001341826.1:n.-31T>A
NM_001354902.2:c.-31T>A NP_001341831.1:n.-31T>A