Canonical Allele Identifier: CA445758847
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs1447250546
MyVariant Identifiers: chr5:g.112170707G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835010G>A , CM000667.2:g.112835010G>A GRCh38
NC_000005.9:g.112170707G>A , CM000667.1:g.112170707G>A GRCh37
NC_000005.8:g.112198606G>A NCBI36
NG_008481.4:g.147490G>A , LRG_130:g.147490G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.1468G>A ENSP00000484935.2:n.1468G>A
ENST00000504915.3:c.1857G>A ENSP00000473355.2:p.Glu619=
ENST00000505350.2:c.*1809G>A ENSP00000481752.1:n.*1809G>A
ENST00000507379.6:c.1749G>A ENSP00000423224.2:p.Glu583=
ENST00000509732.6:c.1803G>A ENSP00000426541.2:p.Glu601=
ENST00000512211.7:c.1803G>A ENSP00000423828.3:p.Glu601=
ENST00000257430.9:c.1803G>A MANE Select ENSP00000257430.4:p.Glu601=
ENST00000257430.8:c.1803G>A ENSP00000257430.4:p.Glu601=
ENST00000502371.2:c.156G>A
ENST00000504915.2:c.492G>A ENSP00000473355.1:p.Glu164=
ENST00000507379.5:c.1749G>A ENSP00000423224.1:p.Glu583=
ENST00000508376.6:c.1803G>A ENSP00000427089.2:p.Glu601=
ENST00000508624.5:c.*1125G>A ENSP00000424265.1:n.*1125G>A
ENST00000512211.6:c.1803G>A ENSP00000423828.2:p.Glu601=
ENST00000520401.1:c.230+6038G>A
NM_000038.5:c.1803G>A NP_000029.2:p.Glu601=
NM_001127510.2:c.1803G>A NP_001120982.1:p.Glu601=
NM_001127511.2:c.1749G>A NP_001120983.2:p.Glu583=
NM_001354895.1:c.1803G>A NP_001341824.1:p.Glu601=
NM_001354896.1:c.1857G>A NP_001341825.1:p.Glu619=
NM_001354897.1:c.1833G>A NP_001341826.1:p.Glu611=
NM_001354898.1:c.1728G>A NP_001341827.1:p.Glu576=
NM_001354899.1:c.1719G>A NP_001341828.1:p.Glu573=
NM_001354900.1:c.1680G>A NP_001341829.1:p.Glu560=
NM_001354901.1:c.1626G>A NP_001341830.1:p.Glu542=
NM_001354902.1:c.1530G>A NP_001341831.1:p.Glu510=
NM_001354903.1:c.1500G>A NP_001341832.1:p.Glu500=
NM_001354904.1:c.1425G>A NP_001341833.1:p.Glu475=
NM_001354905.1:c.1323G>A NP_001341834.1:p.Glu441=
NM_001354906.1:c.954G>A NP_001341835.1:p.Glu318=
NM_000038.6:c.1803G>A MANE Select NP_000029.2:p.Glu601=
NM_001127510.3:c.1803G>A NP_001120982.1:p.Glu601=
NM_001127511.3:c.1749G>A NP_001120983.2:p.Glu583=
NM_001354895.2:c.1803G>A NP_001341824.1:p.Glu601=
NM_001354896.2:c.1857G>A NP_001341825.1:p.Glu619=
NM_001354897.2:c.1833G>A NP_001341826.1:p.Glu611=
NM_001354898.2:c.1728G>A NP_001341827.1:p.Glu576=
NM_001354899.2:c.1719G>A NP_001341828.1:p.Glu573=
NM_001354900.2:c.1680G>A NP_001341829.1:p.Glu560=
NM_001354901.2:c.1626G>A NP_001341830.1:p.Glu542=
NM_001354902.2:c.1530G>A NP_001341831.1:p.Glu510=
NM_001354903.2:c.1500G>A NP_001341832.1:p.Glu500=
NM_001354904.2:c.1425G>A NP_001341833.1:p.Glu475=
NM_001354905.2:c.1323G>A NP_001341834.1:p.Glu441=
NM_001354906.2:c.954G>A NP_001341835.1:p.Glu318=