Canonical Allele Identifier: CA16023185
Community Standard Title: NM_000038.6(APC):c.854A>C (p.Asp285Ala)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112815514A>C , CM000667.2:g.112815514A>C GRCh38
NC_000005.9:g.112151211A>C , CM000667.1:g.112151211A>C GRCh37
NC_000005.8:g.112179110A>C NCBI36
NG_008481.4:g.127994A>C , LRG_130:g.127994A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.854A>C MANE Select NP_000029.2:p.Asp285Ala
ENST00000257430.9:c.854A>C MANE Select ENSP00000257430.4:p.Asp285Ala
NM_000038.5:c.854A>C NP_000029.2:p.Asp285Ala
NM_001127510.2:c.854A>C NP_001120982.1:p.Asp285Ala
NM_001127510.3:c.854A>C NP_001120982.1:p.Asp285Ala
NM_001127511.2:c.800A>C NP_001120983.2:p.Asp267Ala
NM_001127511.3:c.800A>C NP_001120983.2:p.Asp267Ala
NM_001354895.1:c.854A>C NP_001341824.1:p.Asp285Ala
NM_001354895.2:c.854A>C NP_001341824.1:p.Asp285Ala
NM_001354896.1:c.854A>C NP_001341825.1:p.Asp285Ala
NM_001354896.2:c.854A>C NP_001341825.1:p.Asp285Ala
NM_001354897.1:c.884A>C NP_001341826.1:p.Asp295Ala
NM_001354897.2:c.884A>C NP_001341826.1:p.Asp295Ala
NM_001354898.1:c.779A>C NP_001341827.1:p.Asp260Ala
NM_001354898.2:c.779A>C NP_001341827.1:p.Asp260Ala
NM_001354899.1:c.770A>C NP_001341828.1:p.Asp257Ala
NM_001354899.2:c.770A>C NP_001341828.1:p.Asp257Ala
NM_001354900.1:c.677A>C NP_001341829.1:p.Asp226Ala
NM_001354900.2:c.677A>C NP_001341829.1:p.Asp226Ala
NM_001354901.1:c.677A>C NP_001341830.1:p.Asp226Ala
NM_001354901.2:c.677A>C NP_001341830.1:p.Asp226Ala
NM_001354902.1:c.884A>C NP_001341831.1:p.Asp295Ala
NM_001354902.2:c.884A>C NP_001341831.1:p.Asp295Ala
NM_001354903.1:c.854A>C NP_001341832.1:p.Asp285Ala
NM_001354903.2:c.854A>C NP_001341832.1:p.Asp285Ala
NM_001354904.1:c.779A>C NP_001341833.1:p.Asp260Ala
NM_001354904.2:c.779A>C NP_001341833.1:p.Asp260Ala
NM_001354905.1:c.677A>C NP_001341834.1:p.Asp226Ala
NM_001354905.2:c.677A>C NP_001341834.1:p.Asp226Ala
NM_001354906.1:c.5A>C NP_001341835.1:p.Asp2Ala
NM_001354906.2:c.5A>C NP_001341835.1:p.Asp2Ala
ENST00000257430.8:c.854A>C ENSP00000257430.4:p.Asp285Ala
ENST00000502371.3:c.854A>C ENSP00000484935.2:p.Asp285Ala
ENST00000504915.3:c.854A>C ENSP00000473355.2:p.Asp285Ala
ENST00000505084.2:n.910A>C
ENST00000505350.2:c.*860A>C ENSP00000481752.1:n.*860A>C
ENST00000507379.5:c.800A>C ENSP00000423224.1:p.Asp267Ala
ENST00000507379.6:c.800A>C ENSP00000423224.2:p.Asp267Ala
ENST00000508376.6:c.854A>C ENSP00000427089.2:p.Asp285Ala
ENST00000508624.5:c.*176A>C ENSP00000424265.1:n.*176A>C
ENST00000509732.6:c.854A>C ENSP00000426541.2:p.Asp285Ala
ENST00000512211.6:c.854A>C ENSP00000423828.2:p.Asp285Ala
ENST00000512211.7:c.854A>C ENSP00000423828.3:p.Asp285Ala