Canonical Allele Identifier: CA10578290

Gene: APC

Linked Data

• ClinVar Variation Id: 231513
• ClinVar RCV Id: RCV000213087 ; RCV000519665 ; RCV000506152 ; RCV001254064 ; RCV003335254
• dbSNP Id: rs74953290
• MyVariant Identifiers: chr5:g.112102976C>G (hg19) ; chr5:g.112767279C>G (hg38)
• PubMed: PMID:21142386

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112767279C>G , CM000667.2:g.112767279C>G	GRCh38
NC_000005.9:g.112102976C>G , CM000667.1:g.112102976C>G	GRCh37
NC_000005.8:g.112130875C>G	NCBI36
NG_008481.4:g.79759C>G , LRG_130:g.79759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.311C>G	ENSP00000484935.2:p.Ser104Ter
ENST00000504915.3:c.311C>G	ENSP00000473355.2:p.Ser104Ter
ENST00000505084.2:n.367C>G
ENST00000505350.2:c.*317C>G	ENSP00000481752.1:n.*317C>G
ENST00000507379.6:c.341C>G	ENSP00000423224.2:p.Ser114Ter
ENST00000509732.6:c.311C>G	ENSP00000426541.2:p.Ser104Ter
ENST00000512211.7:c.311C>G	ENSP00000423828.3:p.Ser104Ter
ENST00000257430.9:c.311C>G MANE Select	ENSP00000257430.4:p.Ser104Ter
ENST00000257430.8:c.311C>G	ENSP00000257430.4:p.Ser104Ter
ENST00000507379.5:c.341C>G	ENSP00000423224.1:p.Ser114Ter
ENST00000508376.6:c.311C>G	ENSP00000427089.2:p.Ser104Ter
ENST00000508624.5:c.311C>G	ENSP00000424265.1:p.Ser104Ter
ENST00000509732.5:c.311C>G	ENSP00000426541.1:p.Ser104Ter
ENST00000512211.6:c.311C>G	ENSP00000423828.2:p.Ser104Ter
NM_000038.5:c.311C>G	NP_000029.2:p.Ser104Ter
NM_001127510.2:c.311C>G	NP_001120982.1:p.Ser104Ter
NM_001127511.2:c.341C>G	NP_001120983.2:p.Ser114Ter
NM_001354895.1:c.311C>G	NP_001341824.1:p.Ser104Ter
NM_001354896.1:c.311C>G	NP_001341825.1:p.Ser104Ter
NM_001354897.1:c.341C>G	NP_001341826.1:p.Ser114Ter
NM_001354898.1:c.236C>G	NP_001341827.1:p.Ser79Ter
NM_001354899.1:c.311C>G	NP_001341828.1:p.Ser104Ter
NM_001354900.1:c.134C>G	NP_001341829.1:p.Ser45Ter
NM_001354901.1:c.134C>G	NP_001341830.1:p.Ser45Ter
NM_001354902.1:c.341C>G	NP_001341831.1:p.Ser114Ter
NM_001354903.1:c.311C>G	NP_001341832.1:p.Ser104Ter
NM_001354904.1:c.236C>G	NP_001341833.1:p.Ser79Ter
NM_001354905.1:c.134C>G	NP_001341834.1:p.Ser45Ter
NM_001354906.1:c.-725C>G	NP_001341835.1:n.-725C>G
NM_000038.6:c.311C>G MANE Select	NP_000029.2:p.Ser104Ter
NM_001127510.3:c.311C>G	NP_001120982.1:p.Ser104Ter
NM_001127511.3:c.341C>G	NP_001120983.2:p.Ser114Ter
NM_001354895.2:c.311C>G	NP_001341824.1:p.Ser104Ter
NM_001354896.2:c.311C>G	NP_001341825.1:p.Ser104Ter
NM_001354897.2:c.341C>G	NP_001341826.1:p.Ser114Ter
NM_001354898.2:c.236C>G	NP_001341827.1:p.Ser79Ter
NM_001354899.2:c.311C>G	NP_001341828.1:p.Ser104Ter
NM_001354900.2:c.134C>G	NP_001341829.1:p.Ser45Ter
NM_001354901.2:c.134C>G	NP_001341830.1:p.Ser45Ter
NM_001354902.2:c.341C>G	NP_001341831.1:p.Ser114Ter
NM_001354903.2:c.311C>G	NP_001341832.1:p.Ser104Ter
NM_001354904.2:c.236C>G	NP_001341833.1:p.Ser79Ter
NM_001354905.2:c.134C>G	NP_001341834.1:p.Ser45Ter
NM_001354906.2:c.-725C>G	NP_001341835.1:n.-725C>G