Canonical Allele Identifier: CA009865

Gene: APC

Linked Data

• ClinVar Variation Id: 184169
• ClinVar RCV Id: RCV000163348 ; RCV000231340 ; RCV000758732 ; RCV000764565 ; RCV002267901 ; RCV003153439 ; RCV003995246
• dbSNP Id: rs769273526
• ExAC: 5:112176396 G / A
• gnomAD v2: 5-112176396-G-A
• gnomAD v3: 5-112840699-G-A
• gnomAD v4: 5-112840699-G-A
• MyVariant Identifiers: chr5:g.112176396G>A (hg19) ; chr5:g.112840699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840699G>A , CM000667.2:g.112840699G>A	GRCh38
NC_000005.9:g.112176396G>A , CM000667.1:g.112176396G>A	GRCh37
NC_000005.8:g.112204295G>A	NCBI36
NG_008481.4:g.153179G>A , LRG_130:g.153179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5159G>A	ENSP00000473355.2:p.Gly1720Glu
ENST00000505350.2:c.*5111G>A	ENSP00000481752.1:n.*5111G>A
ENST00000507379.6:c.5051G>A	ENSP00000423224.2:p.Gly1684Glu
ENST00000509732.6:c.5105G>A	ENSP00000426541.2:p.Gly1702Glu
ENST00000512211.7:c.5105G>A	ENSP00000423828.3:p.Gly1702Glu
ENST00000257430.9:c.5105G>A MANE Select	ENSP00000257430.4:p.Gly1702Glu
ENST00000257430.8:c.5105G>A	ENSP00000257430.4:p.Gly1702Glu
ENST00000508376.6:c.5105G>A	ENSP00000427089.2:p.Gly1702Glu
ENST00000508624.5:c.*4427G>A	ENSP00000424265.1:n.*4427G>A
ENST00000520401.1:c.230+11727G>A
NM_000038.5:c.5105G>A	NP_000029.2:p.Gly1702Glu
NM_001127510.2:c.5105G>A	NP_001120982.1:p.Gly1702Glu
NM_001127511.2:c.5051G>A	NP_001120983.2:p.Gly1684Glu
NM_001354895.1:c.5105G>A	NP_001341824.1:p.Gly1702Glu
NM_001354896.1:c.5159G>A	NP_001341825.1:p.Gly1720Glu
NM_001354897.1:c.5135G>A	NP_001341826.1:p.Gly1712Glu
NM_001354898.1:c.5030G>A	NP_001341827.1:p.Gly1677Glu
NM_001354899.1:c.5021G>A	NP_001341828.1:p.Gly1674Glu
NM_001354900.1:c.4982G>A	NP_001341829.1:p.Gly1661Glu
NM_001354901.1:c.4928G>A	NP_001341830.1:p.Gly1643Glu
NM_001354902.1:c.4832G>A	NP_001341831.1:p.Gly1611Glu
NM_001354903.1:c.4802G>A	NP_001341832.1:p.Gly1601Glu
NM_001354904.1:c.4727G>A	NP_001341833.1:p.Gly1576Glu
NM_001354905.1:c.4625G>A	NP_001341834.1:p.Gly1542Glu
NM_001354906.1:c.4256G>A	NP_001341835.1:p.Gly1419Glu
NM_000038.6:c.5105G>A MANE Select	NP_000029.2:p.Gly1702Glu
NM_001127510.3:c.5105G>A	NP_001120982.1:p.Gly1702Glu
NM_001127511.3:c.5051G>A	NP_001120983.2:p.Gly1684Glu
NM_001354895.2:c.5105G>A	NP_001341824.1:p.Gly1702Glu
NM_001354896.2:c.5159G>A	NP_001341825.1:p.Gly1720Glu
NM_001354897.2:c.5135G>A	NP_001341826.1:p.Gly1712Glu
NM_001354898.2:c.5030G>A	NP_001341827.1:p.Gly1677Glu
NM_001354899.2:c.5021G>A	NP_001341828.1:p.Gly1674Glu
NM_001354900.2:c.4982G>A	NP_001341829.1:p.Gly1661Glu
NM_001354901.2:c.4928G>A	NP_001341830.1:p.Gly1643Glu
NM_001354902.2:c.4832G>A	NP_001341831.1:p.Gly1611Glu
NM_001354903.2:c.4802G>A	NP_001341832.1:p.Gly1601Glu
NM_001354904.2:c.4727G>A	NP_001341833.1:p.Gly1576Glu
NM_001354905.2:c.4625G>A	NP_001341834.1:p.Gly1542Glu
NM_001354906.2:c.4256G>A	NP_001341835.1:p.Gly1419Glu