Canonical Allele Identifier: CA446208742

Gene: APC

Linked Data

• ClinVar Variation Id: 3148131
• ClinVar RCV Id: RCV004440033
• dbSNP Id: rs876658910
• MyVariant Identifiers: chr5:g.112176277C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840580C>A , CM000667.2:g.112840580C>A	GRCh38
NC_000005.9:g.112176277C>A , CM000667.1:g.112176277C>A	GRCh37
NC_000005.8:g.112204176C>A	NCBI36
NG_008481.4:g.153060C>A , LRG_130:g.153060C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5040C>A	ENSP00000473355.2:p.Ile1680=
ENST00000505350.2:c.*4992C>A	ENSP00000481752.1:n.*4992C>A
ENST00000507379.6:c.4932C>A	ENSP00000423224.2:p.Ile1644=
ENST00000509732.6:c.4986C>A	ENSP00000426541.2:p.Ile1662=
ENST00000512211.7:c.4986C>A	ENSP00000423828.3:p.Ile1662=
ENST00000257430.9:c.4986C>A MANE Select	ENSP00000257430.4:p.Ile1662=
ENST00000257430.8:c.4986C>A	ENSP00000257430.4:p.Ile1662=
ENST00000508376.6:c.4986C>A	ENSP00000427089.2:p.Ile1662=
ENST00000508624.5:c.*4308C>A	ENSP00000424265.1:n.*4308C>A
ENST00000520401.1:c.230+11608C>A
NM_000038.5:c.4986C>A	NP_000029.2:p.Ile1662=
NM_001127510.2:c.4986C>A	NP_001120982.1:p.Ile1662=
NM_001127511.2:c.4932C>A	NP_001120983.2:p.Ile1644=
NM_001354895.1:c.4986C>A	NP_001341824.1:p.Ile1662=
NM_001354896.1:c.5040C>A	NP_001341825.1:p.Ile1680=
NM_001354897.1:c.5016C>A	NP_001341826.1:p.Ile1672=
NM_001354898.1:c.4911C>A	NP_001341827.1:p.Ile1637=
NM_001354899.1:c.4902C>A	NP_001341828.1:p.Ile1634=
NM_001354900.1:c.4863C>A	NP_001341829.1:p.Ile1621=
NM_001354901.1:c.4809C>A	NP_001341830.1:p.Ile1603=
NM_001354902.1:c.4713C>A	NP_001341831.1:p.Ile1571=
NM_001354903.1:c.4683C>A	NP_001341832.1:p.Ile1561=
NM_001354904.1:c.4608C>A	NP_001341833.1:p.Ile1536=
NM_001354905.1:c.4506C>A	NP_001341834.1:p.Ile1502=
NM_001354906.1:c.4137C>A	NP_001341835.1:p.Ile1379=
NM_000038.6:c.4986C>A MANE Select	NP_000029.2:p.Ile1662=
NM_001127510.3:c.4986C>A	NP_001120982.1:p.Ile1662=
NM_001127511.3:c.4932C>A	NP_001120983.2:p.Ile1644=
NM_001354895.2:c.4986C>A	NP_001341824.1:p.Ile1662=
NM_001354896.2:c.5040C>A	NP_001341825.1:p.Ile1680=
NM_001354897.2:c.5016C>A	NP_001341826.1:p.Ile1672=
NM_001354898.2:c.4911C>A	NP_001341827.1:p.Ile1637=
NM_001354899.2:c.4902C>A	NP_001341828.1:p.Ile1634=
NM_001354900.2:c.4863C>A	NP_001341829.1:p.Ile1621=
NM_001354901.2:c.4809C>A	NP_001341830.1:p.Ile1603=
NM_001354902.2:c.4713C>A	NP_001341831.1:p.Ile1571=
NM_001354903.2:c.4683C>A	NP_001341832.1:p.Ile1561=
NM_001354904.2:c.4608C>A	NP_001341833.1:p.Ile1536=
NM_001354905.2:c.4506C>A	NP_001341834.1:p.Ile1502=
NM_001354906.2:c.4137C>A	NP_001341835.1:p.Ile1379=