Canonical Allele Identifier: CA16024504

Gene: APC

Linked Data

• ClinVar Variation Id: 1018692
• ClinVar RCV Id: RCV002241988 ; RCV002395683
• dbSNP Id: rs1763771481
• MyVariant Identifiers: chr5:g.112162856G>A (hg19) ; chr5:g.112827159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112827159G>A , CM000667.2:g.112827159G>A	GRCh38
NC_000005.9:g.112162856G>A , CM000667.1:g.112162856G>A	GRCh37
NC_000005.8:g.112190755G>A	NCBI36
NG_008481.4:g.139639G>A , LRG_130:g.139639G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1408+5168G>A	ENSP00000484935.2:n.1408+5168G>A
ENST00000504915.3:c.1514G>A	ENSP00000473355.2:p.Gly505Glu
ENST00000505084.2:n.1516G>A
ENST00000505350.2:c.*1466G>A	ENSP00000481752.1:n.*1466G>A
ENST00000507379.6:c.1406G>A	ENSP00000423224.2:p.Gly469Glu
ENST00000509732.6:c.1460G>A	ENSP00000426541.2:p.Gly487Glu
ENST00000512211.7:c.1460G>A	ENSP00000423828.3:p.Gly487Glu
ENST00000257430.9:c.1460G>A MANE Select	ENSP00000257430.4:p.Gly487Glu
ENST00000257430.8:c.1460G>A	ENSP00000257430.4:p.Gly487Glu
ENST00000502371.2:c.96+5168G>A
ENST00000504915.2:c.149G>A	ENSP00000473355.1:p.Gly50Glu
ENST00000507379.5:c.1406G>A	ENSP00000423224.1:p.Gly469Glu
ENST00000508376.6:c.1460G>A	ENSP00000427089.2:p.Gly487Glu
ENST00000508624.5:c.*782G>A	ENSP00000424265.1:n.*782G>A
ENST00000512211.6:c.1460G>A	ENSP00000423828.2:p.Gly487Glu
NM_000038.5:c.1460G>A	NP_000029.2:p.Gly487Glu
NM_001127510.2:c.1460G>A	NP_001120982.1:p.Gly487Glu
NM_001127511.2:c.1406G>A	NP_001120983.2:p.Gly469Glu
NM_001354895.1:c.1460G>A	NP_001341824.1:p.Gly487Glu
NM_001354896.1:c.1514G>A	NP_001341825.1:p.Gly505Glu
NM_001354897.1:c.1490G>A	NP_001341826.1:p.Gly497Glu
NM_001354898.1:c.1385G>A	NP_001341827.1:p.Gly462Glu
NM_001354899.1:c.1376G>A	NP_001341828.1:p.Gly459Glu
NM_001354900.1:c.1337G>A	NP_001341829.1:p.Gly446Glu
NM_001354901.1:c.1283G>A	NP_001341830.1:p.Gly428Glu
NM_001354902.1:c.1187G>A	NP_001341831.1:p.Gly396Glu
NM_001354903.1:c.1157G>A	NP_001341832.1:p.Gly386Glu
NM_001354904.1:c.1082G>A	NP_001341833.1:p.Gly361Glu
NM_001354905.1:c.980G>A	NP_001341834.1:p.Gly327Glu
NM_001354906.1:c.611G>A	NP_001341835.1:p.Gly204Glu
NM_000038.6:c.1460G>A MANE Select	NP_000029.2:p.Gly487Glu
NM_001127510.3:c.1460G>A	NP_001120982.1:p.Gly487Glu
NM_001127511.3:c.1406G>A	NP_001120983.2:p.Gly469Glu
NM_001354895.2:c.1460G>A	NP_001341824.1:p.Gly487Glu
NM_001354896.2:c.1514G>A	NP_001341825.1:p.Gly505Glu
NM_001354897.2:c.1490G>A	NP_001341826.1:p.Gly497Glu
NM_001354898.2:c.1385G>A	NP_001341827.1:p.Gly462Glu
NM_001354899.2:c.1376G>A	NP_001341828.1:p.Gly459Glu
NM_001354900.2:c.1337G>A	NP_001341829.1:p.Gly446Glu
NM_001354901.2:c.1283G>A	NP_001341830.1:p.Gly428Glu
NM_001354902.2:c.1187G>A	NP_001341831.1:p.Gly396Glu
NM_001354903.2:c.1157G>A	NP_001341832.1:p.Gly386Glu
NM_001354904.2:c.1082G>A	NP_001341833.1:p.Gly361Glu
NM_001354905.2:c.980G>A	NP_001341834.1:p.Gly327Glu
NM_001354906.2:c.611G>A	NP_001341835.1:p.Gly204Glu