Canonical Allele Identifier: CA445963725
Community Standard Title: NM_000038.6(APC):c.3831A>G (p.Leu1277=)
Gene: APC HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112839425A>G , CM000667.2:g.112839425A>G GRCh38
NC_000005.9:g.112175122A>G , CM000667.1:g.112175122A>G GRCh37
NC_000005.8:g.112203021A>G NCBI36
NG_008481.4:g.151905A>G , LRG_130:g.151905A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000038.6:c.3831A>G MANE Select NP_000029.2:p.Leu1277=
ENST00000257430.9:c.3831A>G MANE Select ENSP00000257430.4:p.Leu1277=
NM_000038.5:c.3831A>G NP_000029.2:p.Leu1277=
NM_001127510.2:c.3831A>G NP_001120982.1:p.Leu1277=
NM_001127510.3:c.3831A>G NP_001120982.1:p.Leu1277=
NM_001127511.2:c.3777A>G NP_001120983.2:p.Leu1259=
NM_001127511.3:c.3777A>G NP_001120983.2:p.Leu1259=
NM_001354895.1:c.3831A>G NP_001341824.1:p.Leu1277=
NM_001354895.2:c.3831A>G NP_001341824.1:p.Leu1277=
NM_001354896.1:c.3885A>G NP_001341825.1:p.Leu1295=
NM_001354896.2:c.3885A>G NP_001341825.1:p.Leu1295=
NM_001354897.1:c.3861A>G NP_001341826.1:p.Leu1287=
NM_001354897.2:c.3861A>G NP_001341826.1:p.Leu1287=
NM_001354898.1:c.3756A>G NP_001341827.1:p.Leu1252=
NM_001354898.2:c.3756A>G NP_001341827.1:p.Leu1252=
NM_001354899.1:c.3747A>G NP_001341828.1:p.Leu1249=
NM_001354899.2:c.3747A>G NP_001341828.1:p.Leu1249=
NM_001354900.1:c.3708A>G NP_001341829.1:p.Leu1236=
NM_001354900.2:c.3708A>G NP_001341829.1:p.Leu1236=
NM_001354901.1:c.3654A>G NP_001341830.1:p.Leu1218=
NM_001354901.2:c.3654A>G NP_001341830.1:p.Leu1218=
NM_001354902.1:c.3558A>G NP_001341831.1:p.Leu1186=
NM_001354902.2:c.3558A>G NP_001341831.1:p.Leu1186=
NM_001354903.1:c.3528A>G NP_001341832.1:p.Leu1176=
NM_001354903.2:c.3528A>G NP_001341832.1:p.Leu1176=
NM_001354904.1:c.3453A>G NP_001341833.1:p.Leu1151=
NM_001354904.2:c.3453A>G NP_001341833.1:p.Leu1151=
NM_001354905.1:c.3351A>G NP_001341834.1:p.Leu1117=
NM_001354905.2:c.3351A>G NP_001341834.1:p.Leu1117=
NM_001354906.1:c.2982A>G NP_001341835.1:p.Leu994=
NM_001354906.2:c.2982A>G NP_001341835.1:p.Leu994=
ENST00000257430.8:c.3831A>G ENSP00000257430.4:p.Leu1277=
ENST00000502371.2:c.2184A>G
ENST00000502371.3:c.3496A>G ENSP00000484935.2:n.3496A>G
ENST00000504915.3:c.3885A>G ENSP00000473355.2:p.Leu1295=
ENST00000505350.2:c.*3837A>G ENSP00000481752.1:n.*3837A>G
ENST00000507379.6:c.3777A>G ENSP00000423224.2:p.Leu1259=
ENST00000508376.6:c.3831A>G ENSP00000427089.2:p.Leu1277=
ENST00000508624.5:c.*3153A>G ENSP00000424265.1:n.*3153A>G
ENST00000509732.6:c.3831A>G ENSP00000426541.2:p.Leu1277=
ENST00000512211.6:c.3831A>G ENSP00000423828.2:p.Leu1277=
ENST00000512211.7:c.3831A>G ENSP00000423828.3:p.Leu1277=
ENST00000520401.1:c.230+10453A>G