Canonical Allele Identifier: CA16026240

Gene: APC

Linked Data

• ClinVar Variation Id: 1788273
• ClinVar RCV Id: RCV002428366 ; RCV003336730
• dbSNP Id: rs773020689
• MyVariant Identifiers: chr5:g.112173531C>A (hg19) ; chr5:g.112837834C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837834C>A , CM000667.2:g.112837834C>A	GRCh38
NC_000005.9:g.112173531C>A , CM000667.1:g.112173531C>A	GRCh37
NC_000005.8:g.112201430C>A	NCBI36
NG_008481.4:g.150314C>A , LRG_130:g.150314C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1905C>A	ENSP00000484935.2:n.1905C>A
ENST00000504915.3:c.2294C>A	ENSP00000473355.2:p.Ser765Ter
ENST00000505350.2:c.*2246C>A	ENSP00000481752.1:n.*2246C>A
ENST00000507379.6:c.2186C>A	ENSP00000423224.2:p.Ser729Ter
ENST00000509732.6:c.2240C>A	ENSP00000426541.2:p.Ser747Ter
ENST00000512211.7:c.2240C>A	ENSP00000423828.3:p.Ser747Ter
ENST00000257430.9:c.2240C>A MANE Select	ENSP00000257430.4:p.Ser747Ter
ENST00000257430.8:c.2240C>A	ENSP00000257430.4:p.Ser747Ter
ENST00000502371.2:c.593C>A
ENST00000507379.5:c.2186C>A	ENSP00000423224.1:p.Ser729Ter
ENST00000508376.6:c.2240C>A	ENSP00000427089.2:p.Ser747Ter
ENST00000508624.5:c.*1562C>A	ENSP00000424265.1:n.*1562C>A
ENST00000512211.6:c.2240C>A	ENSP00000423828.2:p.Ser747Ter
ENST00000520401.1:c.230+8862C>A
NM_000038.5:c.2240C>A	NP_000029.2:p.Ser747Ter
NM_001127510.2:c.2240C>A	NP_001120982.1:p.Ser747Ter
NM_001127511.2:c.2186C>A	NP_001120983.2:p.Ser729Ter
NM_001354895.1:c.2240C>A	NP_001341824.1:p.Ser747Ter
NM_001354896.1:c.2294C>A	NP_001341825.1:p.Ser765Ter
NM_001354897.1:c.2270C>A	NP_001341826.1:p.Ser757Ter
NM_001354898.1:c.2165C>A	NP_001341827.1:p.Ser722Ter
NM_001354899.1:c.2156C>A	NP_001341828.1:p.Ser719Ter
NM_001354900.1:c.2117C>A	NP_001341829.1:p.Ser706Ter
NM_001354901.1:c.2063C>A	NP_001341830.1:p.Ser688Ter
NM_001354902.1:c.1967C>A	NP_001341831.1:p.Ser656Ter
NM_001354903.1:c.1937C>A	NP_001341832.1:p.Ser646Ter
NM_001354904.1:c.1862C>A	NP_001341833.1:p.Ser621Ter
NM_001354905.1:c.1760C>A	NP_001341834.1:p.Ser587Ter
NM_001354906.1:c.1391C>A	NP_001341835.1:p.Ser464Ter
NM_000038.6:c.2240C>A MANE Select	NP_000029.2:p.Ser747Ter
NM_001127510.3:c.2240C>A	NP_001120982.1:p.Ser747Ter
NM_001127511.3:c.2186C>A	NP_001120983.2:p.Ser729Ter
NM_001354895.2:c.2240C>A	NP_001341824.1:p.Ser747Ter
NM_001354896.2:c.2294C>A	NP_001341825.1:p.Ser765Ter
NM_001354897.2:c.2270C>A	NP_001341826.1:p.Ser757Ter
NM_001354898.2:c.2165C>A	NP_001341827.1:p.Ser722Ter
NM_001354899.2:c.2156C>A	NP_001341828.1:p.Ser719Ter
NM_001354900.2:c.2117C>A	NP_001341829.1:p.Ser706Ter
NM_001354901.2:c.2063C>A	NP_001341830.1:p.Ser688Ter
NM_001354902.2:c.1967C>A	NP_001341831.1:p.Ser656Ter
NM_001354903.2:c.1937C>A	NP_001341832.1:p.Ser646Ter
NM_001354904.2:c.1862C>A	NP_001341833.1:p.Ser621Ter
NM_001354905.2:c.1760C>A	NP_001341834.1:p.Ser587Ter
NM_001354906.2:c.1391C>A	NP_001341835.1:p.Ser464Ter