Canonical Allele Identifier: CA445960353
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1751342
ClinVar RCV Id: RCV002358329
dbSNP Id: rs2149782632
MyVariant Identifiers: chr5:g.112154944A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112819247A>T , CM000667.2:g.112819247A>T GRCh38
NC_000005.9:g.112154944A>T , CM000667.1:g.112154944A>T GRCh37
NC_000005.8:g.112182843A>T NCBI36
NG_008481.4:g.131727A>T , LRG_130:g.131727A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000502371.3:c.1215A>T ENSP00000484935.2:p.Arg405=
ENST00000504915.3:c.1215A>T ENSP00000473355.2:p.Arg405=
ENST00000505084.2:n.1271A>T
ENST00000505350.2:c.*1221A>T ENSP00000481752.1:n.*1221A>T
ENST00000507379.6:c.1161A>T ENSP00000423224.2:p.Arg387=
ENST00000509732.6:c.1215A>T ENSP00000426541.2:p.Arg405=
ENST00000512211.7:c.1215A>T ENSP00000423828.3:p.Arg405=
ENST00000257430.9:c.1215A>T MANE Select ENSP00000257430.4:p.Arg405=
ENST00000257430.8:c.1215A>T ENSP00000257430.4:p.Arg405=
ENST00000507379.5:c.1161A>T ENSP00000423224.1:p.Arg387=
ENST00000508376.6:c.1215A>T ENSP00000427089.2:p.Arg405=
ENST00000508624.5:c.*537A>T ENSP00000424265.1:n.*537A>T
ENST00000512211.6:c.1215A>T ENSP00000423828.2:p.Arg405=
NM_000038.5:c.1215A>T NP_000029.2:p.Arg405=
NM_001127510.2:c.1215A>T NP_001120982.1:p.Arg405=
NM_001127511.2:c.1161A>T NP_001120983.2:p.Arg387=
NM_001354895.1:c.1215A>T NP_001341824.1:p.Arg405=
NM_001354896.1:c.1215A>T NP_001341825.1:p.Arg405=
NM_001354897.1:c.1245A>T NP_001341826.1:p.Arg415=
NM_001354898.1:c.1140A>T NP_001341827.1:p.Arg380=
NM_001354899.1:c.1131A>T NP_001341828.1:p.Arg377=
NM_001354900.1:c.1038A>T NP_001341829.1:p.Arg346=
NM_001354901.1:c.1038A>T NP_001341830.1:p.Arg346=
NM_001354902.1:c.964-22A>T NP_001341831.1:n.964-22A>T
NM_001354903.1:c.934-22A>T NP_001341832.1:n.934-22A>T
NM_001354904.1:c.859-22A>T NP_001341833.1:n.859-22A>T
NM_001354905.1:c.757-22A>T NP_001341834.1:n.757-22A>T
NM_001354906.1:c.366A>T NP_001341835.1:p.Arg122=
NM_000038.6:c.1215A>T MANE Select NP_000029.2:p.Arg405=
NM_001127510.3:c.1215A>T NP_001120982.1:p.Arg405=
NM_001127511.3:c.1161A>T NP_001120983.2:p.Arg387=
NM_001354895.2:c.1215A>T NP_001341824.1:p.Arg405=
NM_001354896.2:c.1215A>T NP_001341825.1:p.Arg405=
NM_001354897.2:c.1245A>T NP_001341826.1:p.Arg415=
NM_001354898.2:c.1140A>T NP_001341827.1:p.Arg380=
NM_001354899.2:c.1131A>T NP_001341828.1:p.Arg377=
NM_001354900.2:c.1038A>T NP_001341829.1:p.Arg346=
NM_001354901.2:c.1038A>T NP_001341830.1:p.Arg346=
NM_001354902.2:c.964-22A>T NP_001341831.1:n.964-22A>T
NM_001354903.2:c.934-22A>T NP_001341832.1:n.934-22A>T
NM_001354904.2:c.859-22A>T NP_001341833.1:n.859-22A>T
NM_001354905.2:c.757-22A>T NP_001341834.1:n.757-22A>T
NM_001354906.2:c.366A>T NP_001341835.1:p.Arg122=