Canonical Allele Identifier: CA445757374
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 631267

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112828867T>C , CM000667.2:g.112828867T>C GRCh38
NC_000005.9:g.112164564T>C , CM000667.1:g.112164564T>C GRCh37
NC_000005.8:g.112192463T>C NCBI36
NG_008481.4:g.141347T>C , LRG_130:g.141347T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1638T>C MANE Select ENSP00000257430.4:p.Ser546=
ENST00000257430.8:c.1638T>C ENSP00000257430.4:p.Ser546=
ENST00000502371.2:n.97-6084T>C
ENST00000504915.2:n.327T>C ENSP00000473355.1:p.Ser109=
ENST00000505084.1:n.125T>C
ENST00000507379.5:c.1584T>C ENSP00000423224.1:p.Ser528=
ENST00000508376.6:c.1638T>C ENSP00000427089.2:p.Ser546=
ENST00000508624.5:c.*960T>C ENSP00000424265.1:n.*960T>C
ENST00000512211.6:c.1638T>C ENSP00000423828.2:p.Ser546=
ENST00000520401.1:n.125T>C
NM_000038.5:c.1638T>C NP_000029.2:p.Ser546=
NM_001127510.2:c.1638T>C NP_001120982.1:p.Ser546=
NM_001127511.2:c.1584T>C NP_001120983.2:p.Ser528=
NM_001354895.1:c.1638T>C NP_001341824.1:p.Ser546=
NM_001354896.1:c.1692T>C NP_001341825.1:p.Ser564=
NM_001354897.1:c.1668T>C NP_001341826.1:p.Ser556=
NM_001354898.1:c.1563T>C NP_001341827.1:p.Ser521=
NM_001354899.1:c.1554T>C NP_001341828.1:p.Ser518=
NM_001354900.1:c.1515T>C NP_001341829.1:p.Ser505=
NM_001354901.1:c.1461T>C NP_001341830.1:p.Ser487=
NM_001354902.1:c.1365T>C NP_001341831.1:p.Ser455=
NM_001354903.1:c.1335T>C NP_001341832.1:p.Ser445=
NM_001354904.1:c.1260T>C NP_001341833.1:p.Ser420=
NM_001354905.1:c.1158T>C NP_001341834.1:p.Ser386=
NM_001354906.1:c.789T>C NP_001341835.1:p.Ser263=
NM_000038.6:c.1638T>C MANE Select NP_000029.2:p.Ser546=
NM_001127510.3:c.1638T>C NP_001120982.1:p.Ser546=
NM_001127511.3:c.1584T>C NP_001120983.2:p.Ser528=
NM_001354895.2:c.1638T>C NP_001341824.1:p.Ser546=
NM_001354896.2:c.1692T>C NP_001341825.1:p.Ser564=
NM_001354897.2:c.1668T>C NP_001341826.1:p.Ser556=
NM_001354898.2:c.1563T>C NP_001341827.1:p.Ser521=
NM_001354899.2:c.1554T>C NP_001341828.1:p.Ser518=
NM_001354900.2:c.1515T>C NP_001341829.1:p.Ser505=
NM_001354901.2:c.1461T>C NP_001341830.1:p.Ser487=
NM_001354902.2:c.1365T>C NP_001341831.1:p.Ser455=
NM_001354903.2:c.1335T>C NP_001341832.1:p.Ser445=
NM_001354904.2:c.1260T>C NP_001341833.1:p.Ser420=
NM_001354905.2:c.1158T>C NP_001341834.1:p.Ser386=
NM_001354906.2:c.789T>C NP_001341835.1:p.Ser263=