Canonical Allele Identifier: CA16029947
Community Standard Title: NM_000038.6(APC):c.3925G>T (p.Glu1309Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839519G>T , CM000667.2:g.112839519G>T GRCh38
NC_000005.9:g.112175216G>T , CM000667.1:g.112175216G>T GRCh37
NC_000005.8:g.112203115G>T NCBI36
NG_008481.4:g.151999G>T , LRG_130:g.151999G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.3925G>T MANE Select NP_000029.2:p.Glu1309Ter
ENST00000257430.9:c.3925G>T MANE Select ENSP00000257430.4:p.Glu1309Ter
NM_000038.5:c.3925G>T NP_000029.2:p.Glu1309Ter
NM_001127510.2:c.3925G>T NP_001120982.1:p.Glu1309Ter
NM_001127510.3:c.3925G>T NP_001120982.1:p.Glu1309Ter
NM_001127511.2:c.3871G>T NP_001120983.2:p.Glu1291Ter
NM_001127511.3:c.3871G>T NP_001120983.2:p.Glu1291Ter
NM_001354895.1:c.3925G>T NP_001341824.1:p.Glu1309Ter
NM_001354895.2:c.3925G>T NP_001341824.1:p.Glu1309Ter
NM_001354896.1:c.3979G>T NP_001341825.1:p.Glu1327Ter
NM_001354896.2:c.3979G>T NP_001341825.1:p.Glu1327Ter
NM_001354897.1:c.3955G>T NP_001341826.1:p.Glu1319Ter
NM_001354897.2:c.3955G>T NP_001341826.1:p.Glu1319Ter
NM_001354898.1:c.3850G>T NP_001341827.1:p.Glu1284Ter
NM_001354898.2:c.3850G>T NP_001341827.1:p.Glu1284Ter
NM_001354899.1:c.3841G>T NP_001341828.1:p.Glu1281Ter
NM_001354899.2:c.3841G>T NP_001341828.1:p.Glu1281Ter
NM_001354900.1:c.3802G>T NP_001341829.1:p.Glu1268Ter
NM_001354900.2:c.3802G>T NP_001341829.1:p.Glu1268Ter
NM_001354901.1:c.3748G>T NP_001341830.1:p.Glu1250Ter
NM_001354901.2:c.3748G>T NP_001341830.1:p.Glu1250Ter
NM_001354902.1:c.3652G>T NP_001341831.1:p.Glu1218Ter
NM_001354902.2:c.3652G>T NP_001341831.1:p.Glu1218Ter
NM_001354903.1:c.3622G>T NP_001341832.1:p.Glu1208Ter
NM_001354903.2:c.3622G>T NP_001341832.1:p.Glu1208Ter
NM_001354904.1:c.3547G>T NP_001341833.1:p.Glu1183Ter
NM_001354904.2:c.3547G>T NP_001341833.1:p.Glu1183Ter
NM_001354905.1:c.3445G>T NP_001341834.1:p.Glu1149Ter
NM_001354905.2:c.3445G>T NP_001341834.1:p.Glu1149Ter
NM_001354906.1:c.3076G>T NP_001341835.1:p.Glu1026Ter
NM_001354906.2:c.3076G>T NP_001341835.1:p.Glu1026Ter
ENST00000257430.8:c.3925G>T ENSP00000257430.4:p.Glu1309Ter
ENST00000502371.2:c.2278G>T
ENST00000502371.3:c.3590G>T ENSP00000484935.2:n.3590G>T
ENST00000504915.3:c.3979G>T ENSP00000473355.2:p.Glu1327Ter
ENST00000505350.2:c.*3931G>T ENSP00000481752.1:n.*3931G>T
ENST00000507379.6:c.3871G>T ENSP00000423224.2:p.Glu1291Ter
ENST00000508376.6:c.3925G>T ENSP00000427089.2:p.Glu1309Ter
ENST00000508624.5:c.*3247G>T ENSP00000424265.1:n.*3247G>T
ENST00000509732.6:c.3925G>T ENSP00000426541.2:p.Glu1309Ter
ENST00000512211.7:c.3925G>T ENSP00000423828.3:p.Glu1309Ter
ENST00000520401.1:c.230+10547G>T