Canonical Allele Identifier: CA16025442
Gene: APC HGNC NCBI

Linked Data

ClinVar Variation Id: 926362
ClinVar RCV Id: RCV001188921
dbSNP Id: rs1019221239

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.112835093T>C , CM000667.2:g.112835093T>C GRCh38
NC_000005.9:g.112170790T>C , CM000667.1:g.112170790T>C GRCh37
NC_000005.8:g.112198689T>C NCBI36
NG_008481.4:g.147573T>C , LRG_130:g.147573T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000257430.9:c.1886T>C MANE Select ENSP00000257430.4:p.Leu629Ser
ENST00000257430.8:c.1886T>C ENSP00000257430.4:p.Leu629Ser
ENST00000502371.2:n.239T>C
ENST00000504915.2:n.575T>C ENSP00000473355.1:p.Leu192Ser
ENST00000507379.5:c.1832T>C ENSP00000423224.1:p.Leu611Ser
ENST00000508376.6:c.1886T>C ENSP00000427089.2:p.Leu629Ser
ENST00000508624.5:c.*1208T>C ENSP00000424265.1:p.=
ENST00000512211.6:c.1886T>C ENSP00000423828.2:p.Leu629Ser
ENST00000520401.1:n.230+6121T>C
NM_000038.5:c.1886T>C NP_000029.2:p.Leu629Ser
NM_001127510.2:c.1886T>C NP_001120982.1:p.Leu629Ser
NM_001127511.2:c.1832T>C NP_001120983.2:p.Leu611Ser
NM_001354895.1:c.1886T>C NP_001341824.1:p.Leu629Ser
NM_001354896.1:c.1940T>C NP_001341825.1:p.Leu647Ser
NM_001354897.1:c.1916T>C NP_001341826.1:p.Leu639Ser
NM_001354898.1:c.1811T>C NP_001341827.1:p.Leu604Ser
NM_001354899.1:c.1802T>C NP_001341828.1:p.Leu601Ser
NM_001354900.1:c.1763T>C NP_001341829.1:p.Leu588Ser
NM_001354901.1:c.1709T>C NP_001341830.1:p.Leu570Ser
NM_001354902.1:c.1613T>C NP_001341831.1:p.Leu538Ser
NM_001354903.1:c.1583T>C NP_001341832.1:p.Leu528Ser
NM_001354904.1:c.1508T>C NP_001341833.1:p.Leu503Ser
NM_001354905.1:c.1406T>C NP_001341834.1:p.Leu469Ser
NM_001354906.1:c.1037T>C NP_001341835.1:p.Leu346Ser
NM_000038.6:c.1886T>C MANE Select NP_000029.2:p.Leu629Ser
NM_001127510.3:c.1886T>C NP_001120982.1:p.Leu629Ser
NM_001127511.3:c.1832T>C NP_001120983.2:p.Leu611Ser
NM_001354895.2:c.1886T>C NP_001341824.1:p.Leu629Ser
NM_001354896.2:c.1940T>C NP_001341825.1:p.Leu647Ser
NM_001354897.2:c.1916T>C NP_001341826.1:p.Leu639Ser
NM_001354898.2:c.1811T>C NP_001341827.1:p.Leu604Ser
NM_001354899.2:c.1802T>C NP_001341828.1:p.Leu601Ser
NM_001354900.2:c.1763T>C NP_001341829.1:p.Leu588Ser
NM_001354901.2:c.1709T>C NP_001341830.1:p.Leu570Ser
NM_001354902.2:c.1613T>C NP_001341831.1:p.Leu538Ser
NM_001354903.2:c.1583T>C NP_001341832.1:p.Leu528Ser
NM_001354904.2:c.1508T>C NP_001341833.1:p.Leu503Ser
NM_001354905.2:c.1406T>C NP_001341834.1:p.Leu469Ser
NM_001354906.2:c.1037T>C NP_001341835.1:p.Leu346Ser