Canonical Allele Identifier: CA446209620
Gene: APC HGNC NCBI

Linked Data

dbSNP Id: rs1554086490
MyVariant Identifiers: chr5:g.112176460T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840763T>C , CM000667.2:g.112840763T>C GRCh38
NC_000005.9:g.112176460T>C , CM000667.1:g.112176460T>C GRCh37
NC_000005.8:g.112204359T>C NCBI36
NG_008481.4:g.153243T>C , LRG_130:g.153243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000504915.3:c.5223T>C ENSP00000473355.2:p.Ile1741=
ENST00000505350.2:c.*5175T>C ENSP00000481752.1:n.*5175T>C
ENST00000507379.6:c.5115T>C ENSP00000423224.2:p.Ile1705=
ENST00000509732.6:c.5169T>C ENSP00000426541.2:p.Ile1723=
ENST00000512211.7:c.5169T>C ENSP00000423828.3:p.Ile1723=
ENST00000257430.9:c.5169T>C MANE Select ENSP00000257430.4:p.Ile1723=
ENST00000257430.8:c.5169T>C ENSP00000257430.4:p.Ile1723=
ENST00000508376.6:c.5169T>C ENSP00000427089.2:p.Ile1723=
ENST00000508624.5:c.*4491T>C ENSP00000424265.1:n.*4491T>C
ENST00000520401.1:c.230+11791T>C
NM_000038.5:c.5169T>C NP_000029.2:p.Ile1723=
NM_001127510.2:c.5169T>C NP_001120982.1:p.Ile1723=
NM_001127511.2:c.5115T>C NP_001120983.2:p.Ile1705=
NM_001354895.1:c.5169T>C NP_001341824.1:p.Ile1723=
NM_001354896.1:c.5223T>C NP_001341825.1:p.Ile1741=
NM_001354897.1:c.5199T>C NP_001341826.1:p.Ile1733=
NM_001354898.1:c.5094T>C NP_001341827.1:p.Ile1698=
NM_001354899.1:c.5085T>C NP_001341828.1:p.Ile1695=
NM_001354900.1:c.5046T>C NP_001341829.1:p.Ile1682=
NM_001354901.1:c.4992T>C NP_001341830.1:p.Ile1664=
NM_001354902.1:c.4896T>C NP_001341831.1:p.Ile1632=
NM_001354903.1:c.4866T>C NP_001341832.1:p.Ile1622=
NM_001354904.1:c.4791T>C NP_001341833.1:p.Ile1597=
NM_001354905.1:c.4689T>C NP_001341834.1:p.Ile1563=
NM_001354906.1:c.4320T>C NP_001341835.1:p.Ile1440=
NM_000038.6:c.5169T>C MANE Select NP_000029.2:p.Ile1723=
NM_001127510.3:c.5169T>C NP_001120982.1:p.Ile1723=
NM_001127511.3:c.5115T>C NP_001120983.2:p.Ile1705=
NM_001354895.2:c.5169T>C NP_001341824.1:p.Ile1723=
NM_001354896.2:c.5223T>C NP_001341825.1:p.Ile1741=
NM_001354897.2:c.5199T>C NP_001341826.1:p.Ile1733=
NM_001354898.2:c.5094T>C NP_001341827.1:p.Ile1698=
NM_001354899.2:c.5085T>C NP_001341828.1:p.Ile1695=
NM_001354900.2:c.5046T>C NP_001341829.1:p.Ile1682=
NM_001354901.2:c.4992T>C NP_001341830.1:p.Ile1664=
NM_001354902.2:c.4896T>C NP_001341831.1:p.Ile1632=
NM_001354903.2:c.4866T>C NP_001341832.1:p.Ile1622=
NM_001354904.2:c.4791T>C NP_001341833.1:p.Ile1597=
NM_001354905.2:c.4689T>C NP_001341834.1:p.Ile1563=
NM_001354906.2:c.4320T>C NP_001341835.1:p.Ile1440=