Canonical Allele Identifier: CA16026175

Gene: APC

Linked Data

• ClinVar Variation Id: 942080
• ClinVar RCV Id: RCV003336335
• dbSNP Id: rs1765131004
• MyVariant Identifiers: chr5:g.112173502C>A (hg19) ; chr5:g.112837805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112837805C>A , CM000667.2:g.112837805C>A	GRCh38
NC_000005.9:g.112173502C>A , CM000667.1:g.112173502C>A	GRCh37
NC_000005.8:g.112201401C>A	NCBI36
NG_008481.4:g.150285C>A , LRG_130:g.150285C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1876C>A	ENSP00000484935.2:n.1876C>A
ENST00000504915.3:c.2265C>A	ENSP00000473355.2:p.Tyr755Ter
ENST00000505350.2:c.*2217C>A	ENSP00000481752.1:n.*2217C>A
ENST00000507379.6:c.2157C>A	ENSP00000423224.2:p.Tyr719Ter
ENST00000509732.6:c.2211C>A	ENSP00000426541.2:p.Tyr737Ter
ENST00000512211.7:c.2211C>A	ENSP00000423828.3:p.Tyr737Ter
ENST00000257430.9:c.2211C>A MANE Select	ENSP00000257430.4:p.Tyr737Ter
ENST00000257430.8:c.2211C>A	ENSP00000257430.4:p.Tyr737Ter
ENST00000502371.2:c.564C>A
ENST00000507379.5:c.2157C>A	ENSP00000423224.1:p.Tyr719Ter
ENST00000508376.6:c.2211C>A	ENSP00000427089.2:p.Tyr737Ter
ENST00000508624.5:c.*1533C>A	ENSP00000424265.1:n.*1533C>A
ENST00000512211.6:c.2211C>A	ENSP00000423828.2:p.Tyr737Ter
ENST00000520401.1:c.230+8833C>A
NM_000038.5:c.2211C>A	NP_000029.2:p.Tyr737Ter
NM_001127510.2:c.2211C>A	NP_001120982.1:p.Tyr737Ter
NM_001127511.2:c.2157C>A	NP_001120983.2:p.Tyr719Ter
NM_001354895.1:c.2211C>A	NP_001341824.1:p.Tyr737Ter
NM_001354896.1:c.2265C>A	NP_001341825.1:p.Tyr755Ter
NM_001354897.1:c.2241C>A	NP_001341826.1:p.Tyr747Ter
NM_001354898.1:c.2136C>A	NP_001341827.1:p.Tyr712Ter
NM_001354899.1:c.2127C>A	NP_001341828.1:p.Tyr709Ter
NM_001354900.1:c.2088C>A	NP_001341829.1:p.Tyr696Ter
NM_001354901.1:c.2034C>A	NP_001341830.1:p.Tyr678Ter
NM_001354902.1:c.1938C>A	NP_001341831.1:p.Tyr646Ter
NM_001354903.1:c.1908C>A	NP_001341832.1:p.Tyr636Ter
NM_001354904.1:c.1833C>A	NP_001341833.1:p.Tyr611Ter
NM_001354905.1:c.1731C>A	NP_001341834.1:p.Tyr577Ter
NM_001354906.1:c.1362C>A	NP_001341835.1:p.Tyr454Ter
NM_000038.6:c.2211C>A MANE Select	NP_000029.2:p.Tyr737Ter
NM_001127510.3:c.2211C>A	NP_001120982.1:p.Tyr737Ter
NM_001127511.3:c.2157C>A	NP_001120983.2:p.Tyr719Ter
NM_001354895.2:c.2211C>A	NP_001341824.1:p.Tyr737Ter
NM_001354896.2:c.2265C>A	NP_001341825.1:p.Tyr755Ter
NM_001354897.2:c.2241C>A	NP_001341826.1:p.Tyr747Ter
NM_001354898.2:c.2136C>A	NP_001341827.1:p.Tyr712Ter
NM_001354899.2:c.2127C>A	NP_001341828.1:p.Tyr709Ter
NM_001354900.2:c.2088C>A	NP_001341829.1:p.Tyr696Ter
NM_001354901.2:c.2034C>A	NP_001341830.1:p.Tyr678Ter
NM_001354902.2:c.1938C>A	NP_001341831.1:p.Tyr646Ter
NM_001354903.2:c.1908C>A	NP_001341832.1:p.Tyr636Ter
NM_001354904.2:c.1833C>A	NP_001341833.1:p.Tyr611Ter
NM_001354905.2:c.1731C>A	NP_001341834.1:p.Tyr577Ter
NM_001354906.2:c.1362C>A	NP_001341835.1:p.Tyr454Ter