Canonical Allele Identifier: CA16039006

Gene: APC

Linked Data

• ClinVar Variation Id: 934269
• ClinVar RCV Id: RCV003650660
• dbSNP Id: rs1479889029
• MyVariant Identifiers: chr5:g.112179429T>G (hg19) ; chr5:g.112843732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843732T>G , CM000667.2:g.112843732T>G	GRCh38
NC_000005.9:g.112179429T>G , CM000667.1:g.112179429T>G	GRCh37
NC_000005.8:g.112207328T>G	NCBI36
NG_008481.4:g.156212T>G , LRG_130:g.156212T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8192T>G	ENSP00000473355.2:p.Met2731Arg
ENST00000505350.2:c.*8144T>G	ENSP00000481752.1:n.*8144T>G
ENST00000507379.6:c.8084T>G	ENSP00000423224.2:p.Met2695Arg
ENST00000509732.6:c.8138T>G	ENSP00000426541.2:p.Met2713Arg
ENST00000512211.7:c.8138T>G	ENSP00000423828.3:p.Met2713Arg
ENST00000257430.9:c.8138T>G MANE Select	ENSP00000257430.4:p.Met2713Arg
ENST00000257430.8:c.8138T>G	ENSP00000257430.4:p.Met2713Arg
ENST00000508376.6:c.8138T>G	ENSP00000427089.2:p.Met2713Arg
ENST00000520401.1:c.231-12917T>G
NM_000038.5:c.8138T>G	NP_000029.2:p.Met2713Arg
NM_001127510.2:c.8138T>G	NP_001120982.1:p.Met2713Arg
NM_001127511.2:c.8084T>G	NP_001120983.2:p.Met2695Arg
NM_001354895.1:c.8138T>G	NP_001341824.1:p.Met2713Arg
NM_001354896.1:c.8192T>G	NP_001341825.1:p.Met2731Arg
NM_001354897.1:c.8168T>G	NP_001341826.1:p.Met2723Arg
NM_001354898.1:c.8063T>G	NP_001341827.1:p.Met2688Arg
NM_001354899.1:c.8054T>G	NP_001341828.1:p.Met2685Arg
NM_001354900.1:c.8015T>G	NP_001341829.1:p.Met2672Arg
NM_001354901.1:c.7961T>G	NP_001341830.1:p.Met2654Arg
NM_001354902.1:c.7865T>G	NP_001341831.1:p.Met2622Arg
NM_001354903.1:c.7835T>G	NP_001341832.1:p.Met2612Arg
NM_001354904.1:c.7760T>G	NP_001341833.1:p.Met2587Arg
NM_001354905.1:c.7658T>G	NP_001341834.1:p.Met2553Arg
NM_001354906.1:c.7289T>G	NP_001341835.1:p.Met2430Arg
NM_000038.6:c.8138T>G MANE Select	NP_000029.2:p.Met2713Arg
NM_001127510.3:c.8138T>G	NP_001120982.1:p.Met2713Arg
NM_001127511.3:c.8084T>G	NP_001120983.2:p.Met2695Arg
NM_001354895.2:c.8138T>G	NP_001341824.1:p.Met2713Arg
NM_001354896.2:c.8192T>G	NP_001341825.1:p.Met2731Arg
NM_001354897.2:c.8168T>G	NP_001341826.1:p.Met2723Arg
NM_001354898.2:c.8063T>G	NP_001341827.1:p.Met2688Arg
NM_001354899.2:c.8054T>G	NP_001341828.1:p.Met2685Arg
NM_001354900.2:c.8015T>G	NP_001341829.1:p.Met2672Arg
NM_001354901.2:c.7961T>G	NP_001341830.1:p.Met2654Arg
NM_001354902.2:c.7865T>G	NP_001341831.1:p.Met2622Arg
NM_001354903.2:c.7835T>G	NP_001341832.1:p.Met2612Arg
NM_001354904.2:c.7760T>G	NP_001341833.1:p.Met2587Arg
NM_001354905.2:c.7658T>G	NP_001341834.1:p.Met2553Arg
NM_001354906.2:c.7289T>G	NP_001341835.1:p.Met2430Arg