Canonical Allele Identifier: CA16031379
Community Standard Title: NM_000038.6(APC):c.4588G>T (p.Glu1530Ter)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112840182G>T , CM000667.2:g.112840182G>T GRCh38
NC_000005.9:g.112175879G>T , CM000667.1:g.112175879G>T GRCh37
NC_000005.8:g.112203778G>T NCBI36
NG_008481.4:g.152662G>T , LRG_130:g.152662G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.4588G>T MANE Select NP_000029.2:p.Glu1530Ter
ENST00000257430.9:c.4588G>T MANE Select ENSP00000257430.4:p.Glu1530Ter
NM_000038.5:c.4588G>T NP_000029.2:p.Glu1530Ter
NM_001127510.2:c.4588G>T NP_001120982.1:p.Glu1530Ter
NM_001127510.3:c.4588G>T NP_001120982.1:p.Glu1530Ter
NM_001127511.2:c.4534G>T NP_001120983.2:p.Glu1512Ter
NM_001127511.3:c.4534G>T NP_001120983.2:p.Glu1512Ter
NM_001354895.1:c.4588G>T NP_001341824.1:p.Glu1530Ter
NM_001354895.2:c.4588G>T NP_001341824.1:p.Glu1530Ter
NM_001354896.1:c.4642G>T NP_001341825.1:p.Glu1548Ter
NM_001354896.2:c.4642G>T NP_001341825.1:p.Glu1548Ter
NM_001354897.1:c.4618G>T NP_001341826.1:p.Glu1540Ter
NM_001354897.2:c.4618G>T NP_001341826.1:p.Glu1540Ter
NM_001354898.1:c.4513G>T NP_001341827.1:p.Glu1505Ter
NM_001354898.2:c.4513G>T NP_001341827.1:p.Glu1505Ter
NM_001354899.1:c.4504G>T NP_001341828.1:p.Glu1502Ter
NM_001354899.2:c.4504G>T NP_001341828.1:p.Glu1502Ter
NM_001354900.1:c.4465G>T NP_001341829.1:p.Glu1489Ter
NM_001354900.2:c.4465G>T NP_001341829.1:p.Glu1489Ter
NM_001354901.1:c.4411G>T NP_001341830.1:p.Glu1471Ter
NM_001354901.2:c.4411G>T NP_001341830.1:p.Glu1471Ter
NM_001354902.1:c.4315G>T NP_001341831.1:p.Glu1439Ter
NM_001354902.2:c.4315G>T NP_001341831.1:p.Glu1439Ter
NM_001354903.1:c.4285G>T NP_001341832.1:p.Glu1429Ter
NM_001354903.2:c.4285G>T NP_001341832.1:p.Glu1429Ter
NM_001354904.1:c.4210G>T NP_001341833.1:p.Glu1404Ter
NM_001354904.2:c.4210G>T NP_001341833.1:p.Glu1404Ter
NM_001354905.1:c.4108G>T NP_001341834.1:p.Glu1370Ter
NM_001354905.2:c.4108G>T NP_001341834.1:p.Glu1370Ter
NM_001354906.1:c.3739G>T NP_001341835.1:p.Glu1247Ter
NM_001354906.2:c.3739G>T NP_001341835.1:p.Glu1247Ter
ENST00000257430.8:c.4588G>T ENSP00000257430.4:p.Glu1530Ter
ENST00000504915.3:c.4642G>T ENSP00000473355.2:p.Glu1548Ter
ENST00000505350.2:c.*4594G>T ENSP00000481752.1:n.*4594G>T
ENST00000507379.6:c.4534G>T ENSP00000423224.2:p.Glu1512Ter
ENST00000508376.6:c.4588G>T ENSP00000427089.2:p.Glu1530Ter
ENST00000508624.5:c.*3910G>T ENSP00000424265.1:n.*3910G>T
ENST00000509732.6:c.4588G>T ENSP00000426541.2:p.Glu1530Ter
ENST00000512211.7:c.4588G>T ENSP00000423828.3:p.Glu1530Ter
ENST00000520401.1:c.230+11210G>T