Canonical Allele Identifier: CA16031843

Gene: APC

Linked Data

• ClinVar Variation Id: 469977
• ClinVar RCV Id: RCV001092763 ; RCV003742718
• dbSNP Id: rs1554086212
• MyVariant Identifiers: chr5:g.112176087C>G (hg19) ; chr5:g.112840390C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840390C>G , CM000667.2:g.112840390C>G	GRCh38
NC_000005.9:g.112176087C>G , CM000667.1:g.112176087C>G	GRCh37
NC_000005.8:g.112203986C>G	NCBI36
NG_008481.4:g.152870C>G , LRG_130:g.152870C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4850C>G	ENSP00000473355.2:p.Ser1617Ter
ENST00000505350.2:c.*4802C>G	ENSP00000481752.1:n.*4802C>G
ENST00000507379.6:c.4742C>G	ENSP00000423224.2:p.Ser1581Ter
ENST00000509732.6:c.4796C>G	ENSP00000426541.2:p.Ser1599Ter
ENST00000512211.7:c.4796C>G	ENSP00000423828.3:p.Ser1599Ter
ENST00000257430.9:c.4796C>G MANE Select	ENSP00000257430.4:p.Ser1599Ter
ENST00000257430.8:c.4796C>G	ENSP00000257430.4:p.Ser1599Ter
ENST00000508376.6:c.4796C>G	ENSP00000427089.2:p.Ser1599Ter
ENST00000508624.5:c.*4118C>G	ENSP00000424265.1:n.*4118C>G
ENST00000520401.1:c.230+11418C>G
NM_000038.5:c.4796C>G	NP_000029.2:p.Ser1599Ter
NM_001127510.2:c.4796C>G	NP_001120982.1:p.Ser1599Ter
NM_001127511.2:c.4742C>G	NP_001120983.2:p.Ser1581Ter
NM_001354895.1:c.4796C>G	NP_001341824.1:p.Ser1599Ter
NM_001354896.1:c.4850C>G	NP_001341825.1:p.Ser1617Ter
NM_001354897.1:c.4826C>G	NP_001341826.1:p.Ser1609Ter
NM_001354898.1:c.4721C>G	NP_001341827.1:p.Ser1574Ter
NM_001354899.1:c.4712C>G	NP_001341828.1:p.Ser1571Ter
NM_001354900.1:c.4673C>G	NP_001341829.1:p.Ser1558Ter
NM_001354901.1:c.4619C>G	NP_001341830.1:p.Ser1540Ter
NM_001354902.1:c.4523C>G	NP_001341831.1:p.Ser1508Ter
NM_001354903.1:c.4493C>G	NP_001341832.1:p.Ser1498Ter
NM_001354904.1:c.4418C>G	NP_001341833.1:p.Ser1473Ter
NM_001354905.1:c.4316C>G	NP_001341834.1:p.Ser1439Ter
NM_001354906.1:c.3947C>G	NP_001341835.1:p.Ser1316Ter
NM_000038.6:c.4796C>G MANE Select	NP_000029.2:p.Ser1599Ter
NM_001127510.3:c.4796C>G	NP_001120982.1:p.Ser1599Ter
NM_001127511.3:c.4742C>G	NP_001120983.2:p.Ser1581Ter
NM_001354895.2:c.4796C>G	NP_001341824.1:p.Ser1599Ter
NM_001354896.2:c.4850C>G	NP_001341825.1:p.Ser1617Ter
NM_001354897.2:c.4826C>G	NP_001341826.1:p.Ser1609Ter
NM_001354898.2:c.4721C>G	NP_001341827.1:p.Ser1574Ter
NM_001354899.2:c.4712C>G	NP_001341828.1:p.Ser1571Ter
NM_001354900.2:c.4673C>G	NP_001341829.1:p.Ser1558Ter
NM_001354901.2:c.4619C>G	NP_001341830.1:p.Ser1540Ter
NM_001354902.2:c.4523C>G	NP_001341831.1:p.Ser1508Ter
NM_001354903.2:c.4493C>G	NP_001341832.1:p.Ser1498Ter
NM_001354904.2:c.4418C>G	NP_001341833.1:p.Ser1473Ter
NM_001354905.2:c.4316C>G	NP_001341834.1:p.Ser1439Ter
NM_001354906.2:c.3947C>G	NP_001341835.1:p.Ser1316Ter