Canonical Allele Identifier: CA10578404

Gene: APC

Linked Data

• ClinVar Variation Id: 231079
• ClinVar RCV Id: RCV000216852 ; RCV000589084 ; RCV002229236
• dbSNP Id: rs459552
• gnomAD v4: 5-112841059-T-G
• MyVariant Identifiers: chr5:g.112176756T>G (hg19) ; chr5:g.112841059T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841059T>G , CM000667.2:g.112841059T>G	GRCh38
NC_000005.9:g.112176756T>G , CM000667.1:g.112176756T>G	GRCh37
NC_000005.8:g.112204655T>G	NCBI36
NG_008481.4:g.153539T>G , LRG_130:g.153539T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5519T>G	ENSP00000473355.2:p.Val1840Gly
ENST00000505350.2:c.*5471T>G	ENSP00000481752.1:n.*5471T>G
ENST00000507379.6:c.5411T>G	ENSP00000423224.2:p.Val1804Gly
ENST00000509732.6:c.5465T>G	ENSP00000426541.2:p.Val1822Gly
ENST00000512211.7:c.5465T>G	ENSP00000423828.3:p.Val1822Gly
ENST00000257430.9:c.5465T>G MANE Select	ENSP00000257430.4:p.Val1822Gly
ENST00000257430.8:c.5465T>G	ENSP00000257430.4:p.Val1822Gly
ENST00000508376.6:c.5465T>G	ENSP00000427089.2:p.Val1822Gly
ENST00000508624.5:c.*4787T>G	ENSP00000424265.1:n.*4787T>G
ENST00000520401.1:c.230+12087T>G
NM_000038.5:c.5465T>G	NP_000029.2:p.Val1822Gly
NM_001127510.2:c.5465T>G	NP_001120982.1:p.Val1822Gly
NM_001127511.2:c.5411T>G	NP_001120983.2:p.Val1804Gly
NM_001354895.1:c.5465T>G	NP_001341824.1:p.Val1822Gly
NM_001354896.1:c.5519T>G	NP_001341825.1:p.Val1840Gly
NM_001354897.1:c.5495T>G	NP_001341826.1:p.Val1832Gly
NM_001354898.1:c.5390T>G	NP_001341827.1:p.Val1797Gly
NM_001354899.1:c.5381T>G	NP_001341828.1:p.Val1794Gly
NM_001354900.1:c.5342T>G	NP_001341829.1:p.Val1781Gly
NM_001354901.1:c.5288T>G	NP_001341830.1:p.Val1763Gly
NM_001354902.1:c.5192T>G	NP_001341831.1:p.Val1731Gly
NM_001354903.1:c.5162T>G	NP_001341832.1:p.Val1721Gly
NM_001354904.1:c.5087T>G	NP_001341833.1:p.Val1696Gly
NM_001354905.1:c.4985T>G	NP_001341834.1:p.Val1662Gly
NM_001354906.1:c.4616T>G	NP_001341835.1:p.Val1539Gly
NM_000038.6:c.5465T>G MANE Select	NP_000029.2:p.Val1822Gly
NM_001127510.3:c.5465T>G	NP_001120982.1:p.Val1822Gly
NM_001127511.3:c.5411T>G	NP_001120983.2:p.Val1804Gly
NM_001354895.2:c.5465T>G	NP_001341824.1:p.Val1822Gly
NM_001354896.2:c.5519T>G	NP_001341825.1:p.Val1840Gly
NM_001354897.2:c.5495T>G	NP_001341826.1:p.Val1832Gly
NM_001354898.2:c.5390T>G	NP_001341827.1:p.Val1797Gly
NM_001354899.2:c.5381T>G	NP_001341828.1:p.Val1794Gly
NM_001354900.2:c.5342T>G	NP_001341829.1:p.Val1781Gly
NM_001354901.2:c.5288T>G	NP_001341830.1:p.Val1763Gly
NM_001354902.2:c.5192T>G	NP_001341831.1:p.Val1731Gly
NM_001354903.2:c.5162T>G	NP_001341832.1:p.Val1721Gly
NM_001354904.2:c.5087T>G	NP_001341833.1:p.Val1696Gly
NM_001354905.2:c.4985T>G	NP_001341834.1:p.Val1662Gly
NM_001354906.2:c.4616T>G	NP_001341835.1:p.Val1539Gly