Canonical Allele Identifier: CA445757379
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 1642983
ClinVar RCV Id: RCV002135780

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828871T>C , CM000667.2:g.112828871T>C GRCh38
NC_000005.9:g.112164568T>C , CM000667.1:g.112164568T>C GRCh37
NC_000005.8:g.112192467T>C NCBI36
NG_008481.4:g.141351T>C , LRG_130:g.141351T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1642T>C MANE Select ENSP00000257430.4:p.Leu548=
ENST00000257430.8:c.1642T>C ENSP00000257430.4:p.Leu548=
ENST00000502371.2:n.97-6080T>C
ENST00000504915.2:n.331T>C ENSP00000473355.1:p.Leu111=
ENST00000505084.1:n.129T>C
ENST00000507379.5:c.1588T>C ENSP00000423224.1:p.Leu530=
ENST00000508376.6:c.1642T>C ENSP00000427089.2:p.Leu548=
ENST00000508624.5:c.*964T>C ENSP00000424265.1:n.*964T>C
ENST00000512211.6:c.1642T>C ENSP00000423828.2:p.Leu548=
ENST00000520401.1:n.129T>C
NM_000038.5:c.1642T>C NP_000029.2:p.Leu548=
NM_001127510.2:c.1642T>C NP_001120982.1:p.Leu548=
NM_001127511.2:c.1588T>C NP_001120983.2:p.Leu530=
NM_001354895.1:c.1642T>C NP_001341824.1:p.Leu548=
NM_001354896.1:c.1696T>C NP_001341825.1:p.Leu566=
NM_001354897.1:c.1672T>C NP_001341826.1:p.Leu558=
NM_001354898.1:c.1567T>C NP_001341827.1:p.Leu523=
NM_001354899.1:c.1558T>C NP_001341828.1:p.Leu520=
NM_001354900.1:c.1519T>C NP_001341829.1:p.Leu507=
NM_001354901.1:c.1465T>C NP_001341830.1:p.Leu489=
NM_001354902.1:c.1369T>C NP_001341831.1:p.Leu457=
NM_001354903.1:c.1339T>C NP_001341832.1:p.Leu447=
NM_001354904.1:c.1264T>C NP_001341833.1:p.Leu422=
NM_001354905.1:c.1162T>C NP_001341834.1:p.Leu388=
NM_001354906.1:c.793T>C NP_001341835.1:p.Leu265=
NM_000038.6:c.1642T>C MANE Select NP_000029.2:p.Leu548=
NM_001127510.3:c.1642T>C NP_001120982.1:p.Leu548=
NM_001127511.3:c.1588T>C NP_001120983.2:p.Leu530=
NM_001354895.2:c.1642T>C NP_001341824.1:p.Leu548=
NM_001354896.2:c.1696T>C NP_001341825.1:p.Leu566=
NM_001354897.2:c.1672T>C NP_001341826.1:p.Leu558=
NM_001354898.2:c.1567T>C NP_001341827.1:p.Leu523=
NM_001354899.2:c.1558T>C NP_001341828.1:p.Leu520=
NM_001354900.2:c.1519T>C NP_001341829.1:p.Leu507=
NM_001354901.2:c.1465T>C NP_001341830.1:p.Leu489=
NM_001354902.2:c.1369T>C NP_001341831.1:p.Leu457=
NM_001354903.2:c.1339T>C NP_001341832.1:p.Leu447=
NM_001354904.2:c.1264T>C NP_001341833.1:p.Leu422=
NM_001354905.2:c.1162T>C NP_001341834.1:p.Leu388=
NM_001354906.2:c.793T>C NP_001341835.1:p.Leu265=