Canonical Allele Identifier: CA445753051
Community Standard Title: NM_000038.6(APC):c.219A>G (p.Lys73=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112766409A>G , CM000667.2:g.112766409A>G GRCh38
NC_000005.9:g.112102106A>G , CM000667.1:g.112102106A>G GRCh37
NC_000005.8:g.112130005A>G NCBI36
NG_008481.4:g.78889A>G , LRG_130:g.78889A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.219A>G MANE Select NP_000029.2:p.Lys73=
ENST00000257430.9:c.219A>G MANE Select ENSP00000257430.4:p.Lys73=
NM_000038.5:c.219A>G NP_000029.2:p.Lys73=
NM_001127510.2:c.219A>G NP_001120982.1:p.Lys73=
NM_001127510.3:c.219A>G NP_001120982.1:p.Lys73=
NM_001127511.2:c.249A>G NP_001120983.2:p.Lys83=
NM_001127511.3:c.249A>G NP_001120983.2:p.Lys83=
NM_001354895.1:c.219A>G NP_001341824.1:p.Lys73=
NM_001354895.2:c.219A>G NP_001341824.1:p.Lys73=
NM_001354896.1:c.219A>G NP_001341825.1:p.Lys73=
NM_001354896.2:c.219A>G NP_001341825.1:p.Lys73=
NM_001354897.1:c.249A>G NP_001341826.1:p.Lys83=
NM_001354897.2:c.249A>G NP_001341826.1:p.Lys83=
NM_001354898.1:c.144A>G NP_001341827.1:p.Lys48=
NM_001354898.2:c.144A>G NP_001341827.1:p.Lys48=
NM_001354899.1:c.219A>G NP_001341828.1:p.Lys73=
NM_001354899.2:c.219A>G NP_001341828.1:p.Lys73=
NM_001354900.1:c.42A>G NP_001341829.1:p.Lys14=
NM_001354900.2:c.42A>G NP_001341829.1:p.Lys14=
NM_001354901.1:c.42A>G NP_001341830.1:p.Lys14=
NM_001354901.2:c.42A>G NP_001341830.1:p.Lys14=
NM_001354902.1:c.249A>G NP_001341831.1:p.Lys83=
NM_001354902.2:c.249A>G NP_001341831.1:p.Lys83=
NM_001354903.1:c.219A>G NP_001341832.1:p.Lys73=
NM_001354903.2:c.219A>G NP_001341832.1:p.Lys73=
NM_001354904.1:c.144A>G NP_001341833.1:p.Lys48=
NM_001354904.2:c.144A>G NP_001341833.1:p.Lys48=
NM_001354905.1:c.42A>G NP_001341834.1:p.Lys14=
NM_001354905.2:c.42A>G NP_001341834.1:p.Lys14=
NM_001354906.1:c.-817A>G NP_001341835.1:n.-817A>G
NM_001354906.2:c.-817A>G NP_001341835.1:n.-817A>G
ENST00000257430.8:c.219A>G ENSP00000257430.4:p.Lys73=
ENST00000502371.3:c.219A>G ENSP00000484935.2:p.Lys73=
ENST00000504915.3:c.219A>G ENSP00000473355.2:p.Lys73=
ENST00000505084.2:n.275A>G
ENST00000505350.2:c.*225A>G ENSP00000481752.1:n.*225A>G
ENST00000507379.5:c.249A>G ENSP00000423224.1:p.Lys83=
ENST00000507379.6:c.249A>G ENSP00000423224.2:p.Lys83=
ENST00000508376.6:c.219A>G ENSP00000427089.2:p.Lys73=
ENST00000508624.5:c.219A>G ENSP00000424265.1:p.Lys73=
ENST00000509732.5:c.219A>G ENSP00000426541.1:p.Lys73=
ENST00000509732.6:c.219A>G ENSP00000426541.2:p.Lys73=
ENST00000512211.6:c.219A>G ENSP00000423828.2:p.Lys73=
ENST00000512211.7:c.219A>G ENSP00000423828.3:p.Lys73=