Canonical Allele Identifier: CA008713
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 133539
dbSNP Id: rs376628500

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112767353G>C , CM000667.2:g.112767353G>C GRCh38
NC_000005.9:g.112103050G>C , CM000667.1:g.112103050G>C GRCh37
NC_000005.8:g.112130949G>C NCBI36
NG_008481.4:g.79833G>C , LRG_130:g.79833G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000502371.3:c.385G>C ENSP00000484935.2:p.Glu129Gln
ENST00000504915.3:c.385G>C ENSP00000473355.2:p.Glu129Gln
ENST00000505084.2:n.441G>C
ENST00000505350.2:c.*391G>C ENSP00000481752.1:n.*391G>C
ENST00000507379.6:c.415G>C ENSP00000423224.2:p.Glu139Gln
ENST00000509732.6:c.385G>C ENSP00000426541.2:p.Glu129Gln
ENST00000512211.7:c.385G>C ENSP00000423828.3:p.Glu129Gln
ENST00000257430.9:c.385G>C MANE Select ENSP00000257430.4:p.Glu129Gln
ENST00000257430.8:c.385G>C ENSP00000257430.4:p.Glu129Gln
ENST00000507379.5:c.415G>C ENSP00000423224.1:p.Glu139Gln
ENST00000508376.6:c.385G>C ENSP00000427089.2:p.Glu129Gln
ENST00000508624.5:c.385G>C ENSP00000424265.1:p.Glu129Gln
ENST00000512211.6:c.385G>C ENSP00000423828.2:p.Glu129Gln
NM_000038.5:c.385G>C NP_000029.2:p.Glu129Gln
NM_001127510.2:c.385G>C NP_001120982.1:p.Glu129Gln
NM_001127511.2:c.415G>C NP_001120983.2:p.Glu139Gln
NM_001354895.1:c.385G>C NP_001341824.1:p.Glu129Gln
NM_001354896.1:c.385G>C NP_001341825.1:p.Glu129Gln
NM_001354897.1:c.415G>C NP_001341826.1:p.Glu139Gln
NM_001354898.1:c.310G>C NP_001341827.1:p.Glu104Gln
NM_001354899.1:c.385G>C NP_001341828.1:p.Glu129Gln
NM_001354900.1:c.208G>C NP_001341829.1:p.Glu70Gln
NM_001354901.1:c.208G>C NP_001341830.1:p.Glu70Gln
NM_001354902.1:c.415G>C NP_001341831.1:p.Glu139Gln
NM_001354903.1:c.385G>C NP_001341832.1:p.Glu129Gln
NM_001354904.1:c.310G>C NP_001341833.1:p.Glu104Gln
NM_001354905.1:c.208G>C NP_001341834.1:p.Glu70Gln
NM_001354906.1:c.-651G>C NP_001341835.1:n.-651G>C
NM_000038.6:c.385G>C MANE Select NP_000029.2:p.Glu129Gln
NM_001127510.3:c.385G>C NP_001120982.1:p.Glu129Gln
NM_001127511.3:c.415G>C NP_001120983.2:p.Glu139Gln
NM_001354895.2:c.385G>C NP_001341824.1:p.Glu129Gln
NM_001354896.2:c.385G>C NP_001341825.1:p.Glu129Gln
NM_001354897.2:c.415G>C NP_001341826.1:p.Glu139Gln
NM_001354898.2:c.310G>C NP_001341827.1:p.Glu104Gln
NM_001354899.2:c.385G>C NP_001341828.1:p.Glu129Gln
NM_001354900.2:c.208G>C NP_001341829.1:p.Glu70Gln
NM_001354901.2:c.208G>C NP_001341830.1:p.Glu70Gln
NM_001354902.2:c.415G>C NP_001341831.1:p.Glu139Gln
NM_001354903.2:c.385G>C NP_001341832.1:p.Glu129Gln
NM_001354904.2:c.310G>C NP_001341833.1:p.Glu104Gln
NM_001354905.2:c.208G>C NP_001341834.1:p.Glu70Gln
NM_001354906.2:c.-651G>C NP_001341835.1:n.-651G>C