Canonical Allele Identifier: CA16032195

Gene: APC

Linked Data

• ClinVar Variation Id: 1744419
• ClinVar RCV Id: RCV002342801
• dbSNP Id: rs2149928573
• MyVariant Identifiers: chr5:g.112176252C>G (hg19) ; chr5:g.112840555C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840555C>G , CM000667.2:g.112840555C>G	GRCh38
NC_000005.9:g.112176252C>G , CM000667.1:g.112176252C>G	GRCh37
NC_000005.8:g.112204151C>G	NCBI36
NG_008481.4:g.153035C>G , LRG_130:g.153035C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5015C>G	ENSP00000473355.2:p.Ala1672Gly
ENST00000505350.2:c.*4967C>G	ENSP00000481752.1:n.*4967C>G
ENST00000507379.6:c.4907C>G	ENSP00000423224.2:p.Ala1636Gly
ENST00000509732.6:c.4961C>G	ENSP00000426541.2:p.Ala1654Gly
ENST00000512211.7:c.4961C>G	ENSP00000423828.3:p.Ala1654Gly
ENST00000257430.9:c.4961C>G MANE Select	ENSP00000257430.4:p.Ala1654Gly
ENST00000257430.8:c.4961C>G	ENSP00000257430.4:p.Ala1654Gly
ENST00000508376.6:c.4961C>G	ENSP00000427089.2:p.Ala1654Gly
ENST00000508624.5:c.*4283C>G	ENSP00000424265.1:n.*4283C>G
ENST00000520401.1:c.230+11583C>G
NM_000038.5:c.4961C>G	NP_000029.2:p.Ala1654Gly
NM_001127510.2:c.4961C>G	NP_001120982.1:p.Ala1654Gly
NM_001127511.2:c.4907C>G	NP_001120983.2:p.Ala1636Gly
NM_001354895.1:c.4961C>G	NP_001341824.1:p.Ala1654Gly
NM_001354896.1:c.5015C>G	NP_001341825.1:p.Ala1672Gly
NM_001354897.1:c.4991C>G	NP_001341826.1:p.Ala1664Gly
NM_001354898.1:c.4886C>G	NP_001341827.1:p.Ala1629Gly
NM_001354899.1:c.4877C>G	NP_001341828.1:p.Ala1626Gly
NM_001354900.1:c.4838C>G	NP_001341829.1:p.Ala1613Gly
NM_001354901.1:c.4784C>G	NP_001341830.1:p.Ala1595Gly
NM_001354902.1:c.4688C>G	NP_001341831.1:p.Ala1563Gly
NM_001354903.1:c.4658C>G	NP_001341832.1:p.Ala1553Gly
NM_001354904.1:c.4583C>G	NP_001341833.1:p.Ala1528Gly
NM_001354905.1:c.4481C>G	NP_001341834.1:p.Ala1494Gly
NM_001354906.1:c.4112C>G	NP_001341835.1:p.Ala1371Gly
NM_000038.6:c.4961C>G MANE Select	NP_000029.2:p.Ala1654Gly
NM_001127510.3:c.4961C>G	NP_001120982.1:p.Ala1654Gly
NM_001127511.3:c.4907C>G	NP_001120983.2:p.Ala1636Gly
NM_001354895.2:c.4961C>G	NP_001341824.1:p.Ala1654Gly
NM_001354896.2:c.5015C>G	NP_001341825.1:p.Ala1672Gly
NM_001354897.2:c.4991C>G	NP_001341826.1:p.Ala1664Gly
NM_001354898.2:c.4886C>G	NP_001341827.1:p.Ala1629Gly
NM_001354899.2:c.4877C>G	NP_001341828.1:p.Ala1626Gly
NM_001354900.2:c.4838C>G	NP_001341829.1:p.Ala1613Gly
NM_001354901.2:c.4784C>G	NP_001341830.1:p.Ala1595Gly
NM_001354902.2:c.4688C>G	NP_001341831.1:p.Ala1563Gly
NM_001354903.2:c.4658C>G	NP_001341832.1:p.Ala1553Gly
NM_001354904.2:c.4583C>G	NP_001341833.1:p.Ala1528Gly
NM_001354905.2:c.4481C>G	NP_001341834.1:p.Ala1494Gly
NM_001354906.2:c.4112C>G	NP_001341835.1:p.Ala1371Gly