Canonical Allele Identifier: CA16022162
Community Standard Title: NM_000038.6(APC):c.386A>T (p.Glu129Val)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112767354A>T , CM000667.2:g.112767354A>T GRCh38
NC_000005.9:g.112103051A>T , CM000667.1:g.112103051A>T GRCh37
NC_000005.8:g.112130950A>T NCBI36
NG_008481.4:g.79834A>T , LRG_130:g.79834A>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.386A>T MANE Select NP_000029.2:p.Glu129Val
ENST00000257430.9:c.386A>T MANE Select ENSP00000257430.4:p.Glu129Val
NM_000038.5:c.386A>T NP_000029.2:p.Glu129Val
NM_001127510.2:c.386A>T NP_001120982.1:p.Glu129Val
NM_001127510.3:c.386A>T NP_001120982.1:p.Glu129Val
NM_001127511.2:c.416A>T NP_001120983.2:p.Glu139Val
NM_001127511.3:c.416A>T NP_001120983.2:p.Glu139Val
NM_001354895.1:c.386A>T NP_001341824.1:p.Glu129Val
NM_001354895.2:c.386A>T NP_001341824.1:p.Glu129Val
NM_001354896.1:c.386A>T NP_001341825.1:p.Glu129Val
NM_001354896.2:c.386A>T NP_001341825.1:p.Glu129Val
NM_001354897.1:c.416A>T NP_001341826.1:p.Glu139Val
NM_001354897.2:c.416A>T NP_001341826.1:p.Glu139Val
NM_001354898.1:c.311A>T NP_001341827.1:p.Glu104Val
NM_001354898.2:c.311A>T NP_001341827.1:p.Glu104Val
NM_001354899.1:c.386A>T NP_001341828.1:p.Glu129Val
NM_001354899.2:c.386A>T NP_001341828.1:p.Glu129Val
NM_001354900.1:c.209A>T NP_001341829.1:p.Glu70Val
NM_001354900.2:c.209A>T NP_001341829.1:p.Glu70Val
NM_001354901.1:c.209A>T NP_001341830.1:p.Glu70Val
NM_001354901.2:c.209A>T NP_001341830.1:p.Glu70Val
NM_001354902.1:c.416A>T NP_001341831.1:p.Glu139Val
NM_001354902.2:c.416A>T NP_001341831.1:p.Glu139Val
NM_001354903.1:c.386A>T NP_001341832.1:p.Glu129Val
NM_001354903.2:c.386A>T NP_001341832.1:p.Glu129Val
NM_001354904.1:c.311A>T NP_001341833.1:p.Glu104Val
NM_001354904.2:c.311A>T NP_001341833.1:p.Glu104Val
NM_001354905.1:c.209A>T NP_001341834.1:p.Glu70Val
NM_001354905.2:c.209A>T NP_001341834.1:p.Glu70Val
NM_001354906.1:c.-650A>T NP_001341835.1:n.-650A>T
NM_001354906.2:c.-650A>T NP_001341835.1:n.-650A>T
ENST00000257430.8:c.386A>T ENSP00000257430.4:p.Glu129Val
ENST00000502371.3:c.386A>T ENSP00000484935.2:p.Glu129Val
ENST00000504915.3:c.386A>T ENSP00000473355.2:p.Glu129Val
ENST00000505084.2:n.442A>T
ENST00000505350.2:c.*392A>T ENSP00000481752.1:n.*392A>T
ENST00000507379.5:c.416A>T ENSP00000423224.1:p.Glu139Val
ENST00000507379.6:c.416A>T ENSP00000423224.2:p.Glu139Val
ENST00000508376.6:c.386A>T ENSP00000427089.2:p.Glu129Val
ENST00000508624.5:c.386A>T ENSP00000424265.1:p.Glu129Val
ENST00000509732.6:c.386A>T ENSP00000426541.2:p.Glu129Val
ENST00000512211.6:c.386A>T ENSP00000423828.2:p.Glu129Val
ENST00000512211.7:c.386A>T ENSP00000423828.3:p.Glu129Val