Canonical Allele Identifier: CA16032903

Gene: APC

Linked Data

• ClinVar Variation Id: 1746651
• ClinVar RCV Id: RCV002344540 ; RCV003653606
• dbSNP Id: rs1765915024
• MyVariant Identifiers: chr5:g.112176585T>C (hg19) ; chr5:g.112840888T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840888T>C , CM000667.2:g.112840888T>C	GRCh38
NC_000005.9:g.112176585T>C , CM000667.1:g.112176585T>C	GRCh37
NC_000005.8:g.112204484T>C	NCBI36
NG_008481.4:g.153368T>C , LRG_130:g.153368T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5348T>C	ENSP00000473355.2:p.Leu1783Ser
ENST00000505350.2:c.*5300T>C	ENSP00000481752.1:n.*5300T>C
ENST00000507379.6:c.5240T>C	ENSP00000423224.2:p.Leu1747Ser
ENST00000509732.6:c.5294T>C	ENSP00000426541.2:p.Leu1765Ser
ENST00000512211.7:c.5294T>C	ENSP00000423828.3:p.Leu1765Ser
ENST00000257430.9:c.5294T>C MANE Select	ENSP00000257430.4:p.Leu1765Ser
ENST00000257430.8:c.5294T>C	ENSP00000257430.4:p.Leu1765Ser
ENST00000508376.6:c.5294T>C	ENSP00000427089.2:p.Leu1765Ser
ENST00000508624.5:c.*4616T>C	ENSP00000424265.1:n.*4616T>C
ENST00000520401.1:c.230+11916T>C
NM_000038.5:c.5294T>C	NP_000029.2:p.Leu1765Ser
NM_001127510.2:c.5294T>C	NP_001120982.1:p.Leu1765Ser
NM_001127511.2:c.5240T>C	NP_001120983.2:p.Leu1747Ser
NM_001354895.1:c.5294T>C	NP_001341824.1:p.Leu1765Ser
NM_001354896.1:c.5348T>C	NP_001341825.1:p.Leu1783Ser
NM_001354897.1:c.5324T>C	NP_001341826.1:p.Leu1775Ser
NM_001354898.1:c.5219T>C	NP_001341827.1:p.Leu1740Ser
NM_001354899.1:c.5210T>C	NP_001341828.1:p.Leu1737Ser
NM_001354900.1:c.5171T>C	NP_001341829.1:p.Leu1724Ser
NM_001354901.1:c.5117T>C	NP_001341830.1:p.Leu1706Ser
NM_001354902.1:c.5021T>C	NP_001341831.1:p.Leu1674Ser
NM_001354903.1:c.4991T>C	NP_001341832.1:p.Leu1664Ser
NM_001354904.1:c.4916T>C	NP_001341833.1:p.Leu1639Ser
NM_001354905.1:c.4814T>C	NP_001341834.1:p.Leu1605Ser
NM_001354906.1:c.4445T>C	NP_001341835.1:p.Leu1482Ser
NM_000038.6:c.5294T>C MANE Select	NP_000029.2:p.Leu1765Ser
NM_001127510.3:c.5294T>C	NP_001120982.1:p.Leu1765Ser
NM_001127511.3:c.5240T>C	NP_001120983.2:p.Leu1747Ser
NM_001354895.2:c.5294T>C	NP_001341824.1:p.Leu1765Ser
NM_001354896.2:c.5348T>C	NP_001341825.1:p.Leu1783Ser
NM_001354897.2:c.5324T>C	NP_001341826.1:p.Leu1775Ser
NM_001354898.2:c.5219T>C	NP_001341827.1:p.Leu1740Ser
NM_001354899.2:c.5210T>C	NP_001341828.1:p.Leu1737Ser
NM_001354900.2:c.5171T>C	NP_001341829.1:p.Leu1724Ser
NM_001354901.2:c.5117T>C	NP_001341830.1:p.Leu1706Ser
NM_001354902.2:c.5021T>C	NP_001341831.1:p.Leu1674Ser
NM_001354903.2:c.4991T>C	NP_001341832.1:p.Leu1664Ser
NM_001354904.2:c.4916T>C	NP_001341833.1:p.Leu1639Ser
NM_001354905.2:c.4814T>C	NP_001341834.1:p.Leu1605Ser
NM_001354906.2:c.4445T>C	NP_001341835.1:p.Leu1482Ser