Canonical Allele Identifier: CA10578423

Gene: APC

Linked Data

• ClinVar Variation Id: 233365
• ClinVar RCV Id: RCV000217724 ; RCV002515718
• dbSNP Id: rs876660358
• MyVariant Identifiers: chr5:g.112177504A>G (hg19) ; chr5:g.112841807A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841807A>G , CM000667.2:g.112841807A>G	GRCh38
NC_000005.9:g.112177504A>G , CM000667.1:g.112177504A>G	GRCh37
NC_000005.8:g.112205403A>G	NCBI36
NG_008481.4:g.154287A>G , LRG_130:g.154287A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.6267A>G	ENSP00000473355.2:p.Ile2089Met
ENST00000505350.2:c.*6219A>G	ENSP00000481752.1:n.*6219A>G
ENST00000507379.6:c.6159A>G	ENSP00000423224.2:p.Ile2053Met
ENST00000509732.6:c.6213A>G	ENSP00000426541.2:p.Ile2071Met
ENST00000512211.7:c.6213A>G	ENSP00000423828.3:p.Ile2071Met
ENST00000257430.9:c.6213A>G MANE Select	ENSP00000257430.4:p.Ile2071Met
ENST00000257430.8:c.6213A>G	ENSP00000257430.4:p.Ile2071Met
ENST00000508376.6:c.6213A>G	ENSP00000427089.2:p.Ile2071Met
ENST00000508624.5:c.*5535A>G	ENSP00000424265.1:n.*5535A>G
ENST00000520401.1:c.230+12835A>G
NM_000038.5:c.6213A>G	NP_000029.2:p.Ile2071Met
NM_001127510.2:c.6213A>G	NP_001120982.1:p.Ile2071Met
NM_001127511.2:c.6159A>G	NP_001120983.2:p.Ile2053Met
NM_001354895.1:c.6213A>G	NP_001341824.1:p.Ile2071Met
NM_001354896.1:c.6267A>G	NP_001341825.1:p.Ile2089Met
NM_001354897.1:c.6243A>G	NP_001341826.1:p.Ile2081Met
NM_001354898.1:c.6138A>G	NP_001341827.1:p.Ile2046Met
NM_001354899.1:c.6129A>G	NP_001341828.1:p.Ile2043Met
NM_001354900.1:c.6090A>G	NP_001341829.1:p.Ile2030Met
NM_001354901.1:c.6036A>G	NP_001341830.1:p.Ile2012Met
NM_001354902.1:c.5940A>G	NP_001341831.1:p.Ile1980Met
NM_001354903.1:c.5910A>G	NP_001341832.1:p.Ile1970Met
NM_001354904.1:c.5835A>G	NP_001341833.1:p.Ile1945Met
NM_001354905.1:c.5733A>G	NP_001341834.1:p.Ile1911Met
NM_001354906.1:c.5364A>G	NP_001341835.1:p.Ile1788Met
NM_000038.6:c.6213A>G MANE Select	NP_000029.2:p.Ile2071Met
NM_001127510.3:c.6213A>G	NP_001120982.1:p.Ile2071Met
NM_001127511.3:c.6159A>G	NP_001120983.2:p.Ile2053Met
NM_001354895.2:c.6213A>G	NP_001341824.1:p.Ile2071Met
NM_001354896.2:c.6267A>G	NP_001341825.1:p.Ile2089Met
NM_001354897.2:c.6243A>G	NP_001341826.1:p.Ile2081Met
NM_001354898.2:c.6138A>G	NP_001341827.1:p.Ile2046Met
NM_001354899.2:c.6129A>G	NP_001341828.1:p.Ile2043Met
NM_001354900.2:c.6090A>G	NP_001341829.1:p.Ile2030Met
NM_001354901.2:c.6036A>G	NP_001341830.1:p.Ile2012Met
NM_001354902.2:c.5940A>G	NP_001341831.1:p.Ile1980Met
NM_001354903.2:c.5910A>G	NP_001341832.1:p.Ile1970Met
NM_001354904.2:c.5835A>G	NP_001341833.1:p.Ile1945Met
NM_001354905.2:c.5733A>G	NP_001341834.1:p.Ile1911Met
NM_001354906.2:c.5364A>G	NP_001341835.1:p.Ile1788Met