Canonical Allele Identifier: CA16032430

Gene: APC

Linked Data

• ClinVar Variation Id: 1013729
• ClinVar RCV Id: RCV003770640 ; RCV004034253
• dbSNP Id: rs1765841513
• MyVariant Identifiers: chr5:g.112176368G>A (hg19) ; chr5:g.112840671G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840671G>A , CM000667.2:g.112840671G>A	GRCh38
NC_000005.9:g.112176368G>A , CM000667.1:g.112176368G>A	GRCh37
NC_000005.8:g.112204267G>A	NCBI36
NG_008481.4:g.153151G>A , LRG_130:g.153151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5131G>A	ENSP00000473355.2:p.Glu1711Lys
ENST00000505350.2:c.*5083G>A	ENSP00000481752.1:n.*5083G>A
ENST00000507379.6:c.5023G>A	ENSP00000423224.2:p.Glu1675Lys
ENST00000509732.6:c.5077G>A	ENSP00000426541.2:p.Glu1693Lys
ENST00000512211.7:c.5077G>A	ENSP00000423828.3:p.Glu1693Lys
ENST00000257430.9:c.5077G>A MANE Select	ENSP00000257430.4:p.Glu1693Lys
ENST00000257430.8:c.5077G>A	ENSP00000257430.4:p.Glu1693Lys
ENST00000508376.6:c.5077G>A	ENSP00000427089.2:p.Glu1693Lys
ENST00000508624.5:c.*4399G>A	ENSP00000424265.1:n.*4399G>A
ENST00000520401.1:c.230+11699G>A
NM_000038.5:c.5077G>A	NP_000029.2:p.Glu1693Lys
NM_001127510.2:c.5077G>A	NP_001120982.1:p.Glu1693Lys
NM_001127511.2:c.5023G>A	NP_001120983.2:p.Glu1675Lys
NM_001354895.1:c.5077G>A	NP_001341824.1:p.Glu1693Lys
NM_001354896.1:c.5131G>A	NP_001341825.1:p.Glu1711Lys
NM_001354897.1:c.5107G>A	NP_001341826.1:p.Glu1703Lys
NM_001354898.1:c.5002G>A	NP_001341827.1:p.Glu1668Lys
NM_001354899.1:c.4993G>A	NP_001341828.1:p.Glu1665Lys
NM_001354900.1:c.4954G>A	NP_001341829.1:p.Glu1652Lys
NM_001354901.1:c.4900G>A	NP_001341830.1:p.Glu1634Lys
NM_001354902.1:c.4804G>A	NP_001341831.1:p.Glu1602Lys
NM_001354903.1:c.4774G>A	NP_001341832.1:p.Glu1592Lys
NM_001354904.1:c.4699G>A	NP_001341833.1:p.Glu1567Lys
NM_001354905.1:c.4597G>A	NP_001341834.1:p.Glu1533Lys
NM_001354906.1:c.4228G>A	NP_001341835.1:p.Glu1410Lys
NM_000038.6:c.5077G>A MANE Select	NP_000029.2:p.Glu1693Lys
NM_001127510.3:c.5077G>A	NP_001120982.1:p.Glu1693Lys
NM_001127511.3:c.5023G>A	NP_001120983.2:p.Glu1675Lys
NM_001354895.2:c.5077G>A	NP_001341824.1:p.Glu1693Lys
NM_001354896.2:c.5131G>A	NP_001341825.1:p.Glu1711Lys
NM_001354897.2:c.5107G>A	NP_001341826.1:p.Glu1703Lys
NM_001354898.2:c.5002G>A	NP_001341827.1:p.Glu1668Lys
NM_001354899.2:c.4993G>A	NP_001341828.1:p.Glu1665Lys
NM_001354900.2:c.4954G>A	NP_001341829.1:p.Glu1652Lys
NM_001354901.2:c.4900G>A	NP_001341830.1:p.Glu1634Lys
NM_001354902.2:c.4804G>A	NP_001341831.1:p.Glu1602Lys
NM_001354903.2:c.4774G>A	NP_001341832.1:p.Glu1592Lys
NM_001354904.2:c.4699G>A	NP_001341833.1:p.Glu1567Lys
NM_001354905.2:c.4597G>A	NP_001341834.1:p.Glu1533Lys
NM_001354906.2:c.4228G>A	NP_001341835.1:p.Glu1410Lys