Canonical Allele Identifier: CA446209496
Community Standard Title: NM_000038.6(APC):c.6267A>G (p.Glu2089=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112841861A>G , CM000667.2:g.112841861A>G GRCh38
NC_000005.9:g.112177558A>G , CM000667.1:g.112177558A>G GRCh37
NC_000005.8:g.112205457A>G NCBI36
NG_008481.4:g.154341A>G , LRG_130:g.154341A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.6267A>G MANE Select NP_000029.2:p.Glu2089=
ENST00000257430.9:c.6267A>G MANE Select ENSP00000257430.4:p.Glu2089=
NM_000038.5:c.6267A>G NP_000029.2:p.Glu2089=
NM_001127510.2:c.6267A>G NP_001120982.1:p.Glu2089=
NM_001127510.3:c.6267A>G NP_001120982.1:p.Glu2089=
NM_001127511.2:c.6213A>G NP_001120983.2:p.Glu2071=
NM_001127511.3:c.6213A>G NP_001120983.2:p.Glu2071=
NM_001354895.1:c.6267A>G NP_001341824.1:p.Glu2089=
NM_001354895.2:c.6267A>G NP_001341824.1:p.Glu2089=
NM_001354896.1:c.6321A>G NP_001341825.1:p.Glu2107=
NM_001354896.2:c.6321A>G NP_001341825.1:p.Glu2107=
NM_001354897.1:c.6297A>G NP_001341826.1:p.Glu2099=
NM_001354897.2:c.6297A>G NP_001341826.1:p.Glu2099=
NM_001354898.1:c.6192A>G NP_001341827.1:p.Glu2064=
NM_001354898.2:c.6192A>G NP_001341827.1:p.Glu2064=
NM_001354899.1:c.6183A>G NP_001341828.1:p.Glu2061=
NM_001354899.2:c.6183A>G NP_001341828.1:p.Glu2061=
NM_001354900.1:c.6144A>G NP_001341829.1:p.Glu2048=
NM_001354900.2:c.6144A>G NP_001341829.1:p.Glu2048=
NM_001354901.1:c.6090A>G NP_001341830.1:p.Glu2030=
NM_001354901.2:c.6090A>G NP_001341830.1:p.Glu2030=
NM_001354902.1:c.5994A>G NP_001341831.1:p.Glu1998=
NM_001354902.2:c.5994A>G NP_001341831.1:p.Glu1998=
NM_001354903.1:c.5964A>G NP_001341832.1:p.Glu1988=
NM_001354903.2:c.5964A>G NP_001341832.1:p.Glu1988=
NM_001354904.1:c.5889A>G NP_001341833.1:p.Glu1963=
NM_001354904.2:c.5889A>G NP_001341833.1:p.Glu1963=
NM_001354905.1:c.5787A>G NP_001341834.1:p.Glu1929=
NM_001354905.2:c.5787A>G NP_001341834.1:p.Glu1929=
NM_001354906.1:c.5418A>G NP_001341835.1:p.Glu1806=
NM_001354906.2:c.5418A>G NP_001341835.1:p.Glu1806=
ENST00000257430.8:c.6267A>G ENSP00000257430.4:p.Glu2089=
ENST00000504915.3:c.6321A>G ENSP00000473355.2:p.Glu2107=
ENST00000505350.2:c.*6273A>G ENSP00000481752.1:n.*6273A>G
ENST00000507379.6:c.6213A>G ENSP00000423224.2:p.Glu2071=
ENST00000508376.6:c.6267A>G ENSP00000427089.2:p.Glu2089=
ENST00000508624.5:c.*5589A>G ENSP00000424265.1:n.*5589A>G
ENST00000509732.6:c.6267A>G ENSP00000426541.2:p.Glu2089=
ENST00000512211.7:c.6267A>G ENSP00000423828.3:p.Glu2089=
ENST00000520401.1:c.230+12889A>G