Canonical Allele Identifier: CA16029547
Community Standard Title: NM_000038.6(APC):c.3745T>A (p.Cys1249Ser)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839339T>A , CM000667.2:g.112839339T>A GRCh38
NC_000005.9:g.112175036T>A , CM000667.1:g.112175036T>A GRCh37
NC_000005.8:g.112202935T>A NCBI36
NG_008481.4:g.151819T>A , LRG_130:g.151819T>A

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.3745T>A MANE Select NP_000029.2:p.Cys1249Ser
ENST00000257430.9:c.3745T>A MANE Select ENSP00000257430.4:p.Cys1249Ser
NM_000038.5:c.3745T>A NP_000029.2:p.Cys1249Ser
NM_001127510.2:c.3745T>A NP_001120982.1:p.Cys1249Ser
NM_001127510.3:c.3745T>A NP_001120982.1:p.Cys1249Ser
NM_001127511.2:c.3691T>A NP_001120983.2:p.Cys1231Ser
NM_001127511.3:c.3691T>A NP_001120983.2:p.Cys1231Ser
NM_001354895.1:c.3745T>A NP_001341824.1:p.Cys1249Ser
NM_001354895.2:c.3745T>A NP_001341824.1:p.Cys1249Ser
NM_001354896.1:c.3799T>A NP_001341825.1:p.Cys1267Ser
NM_001354896.2:c.3799T>A NP_001341825.1:p.Cys1267Ser
NM_001354897.1:c.3775T>A NP_001341826.1:p.Cys1259Ser
NM_001354897.2:c.3775T>A NP_001341826.1:p.Cys1259Ser
NM_001354898.1:c.3670T>A NP_001341827.1:p.Cys1224Ser
NM_001354898.2:c.3670T>A NP_001341827.1:p.Cys1224Ser
NM_001354899.1:c.3661T>A NP_001341828.1:p.Cys1221Ser
NM_001354899.2:c.3661T>A NP_001341828.1:p.Cys1221Ser
NM_001354900.1:c.3622T>A NP_001341829.1:p.Cys1208Ser
NM_001354900.2:c.3622T>A NP_001341829.1:p.Cys1208Ser
NM_001354901.1:c.3568T>A NP_001341830.1:p.Cys1190Ser
NM_001354901.2:c.3568T>A NP_001341830.1:p.Cys1190Ser
NM_001354902.1:c.3472T>A NP_001341831.1:p.Cys1158Ser
NM_001354902.2:c.3472T>A NP_001341831.1:p.Cys1158Ser
NM_001354903.1:c.3442T>A NP_001341832.1:p.Cys1148Ser
NM_001354903.2:c.3442T>A NP_001341832.1:p.Cys1148Ser
NM_001354904.1:c.3367T>A NP_001341833.1:p.Cys1123Ser
NM_001354904.2:c.3367T>A NP_001341833.1:p.Cys1123Ser
NM_001354905.1:c.3265T>A NP_001341834.1:p.Cys1089Ser
NM_001354905.2:c.3265T>A NP_001341834.1:p.Cys1089Ser
NM_001354906.1:c.2896T>A NP_001341835.1:p.Cys966Ser
NM_001354906.2:c.2896T>A NP_001341835.1:p.Cys966Ser
ENST00000257430.8:c.3745T>A ENSP00000257430.4:p.Cys1249Ser
ENST00000502371.2:c.2098T>A
ENST00000502371.3:c.3410T>A ENSP00000484935.2:n.3410T>A
ENST00000504915.3:c.3799T>A ENSP00000473355.2:p.Cys1267Ser
ENST00000505350.2:c.*3751T>A ENSP00000481752.1:n.*3751T>A
ENST00000507379.6:c.3691T>A ENSP00000423224.2:p.Cys1231Ser
ENST00000508376.6:c.3745T>A ENSP00000427089.2:p.Cys1249Ser
ENST00000508624.5:c.*3067T>A ENSP00000424265.1:n.*3067T>A
ENST00000509732.6:c.3745T>A ENSP00000426541.2:p.Cys1249Ser
ENST00000512211.6:c.3745T>A ENSP00000423828.2:p.Cys1249Ser
ENST00000512211.7:c.3745T>A ENSP00000423828.3:p.Cys1249Ser
ENST00000520401.1:c.230+10367T>A