Canonical Allele Identifier: CA16032450

Gene: APC

Linked Data

• ClinVar Variation Id: 638969
• ClinVar RCV Id: RCV003653322
• dbSNP Id: rs1580656083
• MyVariant Identifiers: chr5:g.112176377A>G (hg19) ; chr5:g.112840680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840680A>G , CM000667.2:g.112840680A>G	GRCh38
NC_000005.9:g.112176377A>G , CM000667.1:g.112176377A>G	GRCh37
NC_000005.8:g.112204276A>G	NCBI36
NG_008481.4:g.153160A>G , LRG_130:g.153160A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5140A>G	ENSP00000473355.2:p.Ser1714Gly
ENST00000505350.2:c.*5092A>G	ENSP00000481752.1:n.*5092A>G
ENST00000507379.6:c.5032A>G	ENSP00000423224.2:p.Ser1678Gly
ENST00000509732.6:c.5086A>G	ENSP00000426541.2:p.Ser1696Gly
ENST00000512211.7:c.5086A>G	ENSP00000423828.3:p.Ser1696Gly
ENST00000257430.9:c.5086A>G MANE Select	ENSP00000257430.4:p.Ser1696Gly
ENST00000257430.8:c.5086A>G	ENSP00000257430.4:p.Ser1696Gly
ENST00000508376.6:c.5086A>G	ENSP00000427089.2:p.Ser1696Gly
ENST00000508624.5:c.*4408A>G	ENSP00000424265.1:n.*4408A>G
ENST00000520401.1:c.230+11708A>G
NM_000038.5:c.5086A>G	NP_000029.2:p.Ser1696Gly
NM_001127510.2:c.5086A>G	NP_001120982.1:p.Ser1696Gly
NM_001127511.2:c.5032A>G	NP_001120983.2:p.Ser1678Gly
NM_001354895.1:c.5086A>G	NP_001341824.1:p.Ser1696Gly
NM_001354896.1:c.5140A>G	NP_001341825.1:p.Ser1714Gly
NM_001354897.1:c.5116A>G	NP_001341826.1:p.Ser1706Gly
NM_001354898.1:c.5011A>G	NP_001341827.1:p.Ser1671Gly
NM_001354899.1:c.5002A>G	NP_001341828.1:p.Ser1668Gly
NM_001354900.1:c.4963A>G	NP_001341829.1:p.Ser1655Gly
NM_001354901.1:c.4909A>G	NP_001341830.1:p.Ser1637Gly
NM_001354902.1:c.4813A>G	NP_001341831.1:p.Ser1605Gly
NM_001354903.1:c.4783A>G	NP_001341832.1:p.Ser1595Gly
NM_001354904.1:c.4708A>G	NP_001341833.1:p.Ser1570Gly
NM_001354905.1:c.4606A>G	NP_001341834.1:p.Ser1536Gly
NM_001354906.1:c.4237A>G	NP_001341835.1:p.Ser1413Gly
NM_000038.6:c.5086A>G MANE Select	NP_000029.2:p.Ser1696Gly
NM_001127510.3:c.5086A>G	NP_001120982.1:p.Ser1696Gly
NM_001127511.3:c.5032A>G	NP_001120983.2:p.Ser1678Gly
NM_001354895.2:c.5086A>G	NP_001341824.1:p.Ser1696Gly
NM_001354896.2:c.5140A>G	NP_001341825.1:p.Ser1714Gly
NM_001354897.2:c.5116A>G	NP_001341826.1:p.Ser1706Gly
NM_001354898.2:c.5011A>G	NP_001341827.1:p.Ser1671Gly
NM_001354899.2:c.5002A>G	NP_001341828.1:p.Ser1668Gly
NM_001354900.2:c.4963A>G	NP_001341829.1:p.Ser1655Gly
NM_001354901.2:c.4909A>G	NP_001341830.1:p.Ser1637Gly
NM_001354902.2:c.4813A>G	NP_001341831.1:p.Ser1605Gly
NM_001354903.2:c.4783A>G	NP_001341832.1:p.Ser1595Gly
NM_001354904.2:c.4708A>G	NP_001341833.1:p.Ser1570Gly
NM_001354905.2:c.4606A>G	NP_001341834.1:p.Ser1536Gly
NM_001354906.2:c.4237A>G	NP_001341835.1:p.Ser1413Gly