Canonical Allele Identifier: CA16039002

Gene: APC

Linked Data

• ClinVar Variation Id: 957959
• ClinVar RCV Id: RCV002418792 ; RCV003650808
• dbSNP Id: rs80277939
• MyVariant Identifiers: chr5:g.112179428A>G (hg19) ; chr5:g.112843731A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843731A>G , CM000667.2:g.112843731A>G	GRCh38
NC_000005.9:g.112179428A>G , CM000667.1:g.112179428A>G	GRCh37
NC_000005.8:g.112207327A>G	NCBI36
NG_008481.4:g.156211A>G , LRG_130:g.156211A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8191A>G	ENSP00000473355.2:p.Met2731Val
ENST00000505350.2:c.*8143A>G	ENSP00000481752.1:n.*8143A>G
ENST00000507379.6:c.8083A>G	ENSP00000423224.2:p.Met2695Val
ENST00000509732.6:c.8137A>G	ENSP00000426541.2:p.Met2713Val
ENST00000512211.7:c.8137A>G	ENSP00000423828.3:p.Met2713Val
ENST00000257430.9:c.8137A>G MANE Select	ENSP00000257430.4:p.Met2713Val
ENST00000257430.8:c.8137A>G	ENSP00000257430.4:p.Met2713Val
ENST00000508376.6:c.8137A>G	ENSP00000427089.2:p.Met2713Val
ENST00000520401.1:c.231-12918A>G
NM_000038.5:c.8137A>G	NP_000029.2:p.Met2713Val
NM_001127510.2:c.8137A>G	NP_001120982.1:p.Met2713Val
NM_001127511.2:c.8083A>G	NP_001120983.2:p.Met2695Val
NM_001354895.1:c.8137A>G	NP_001341824.1:p.Met2713Val
NM_001354896.1:c.8191A>G	NP_001341825.1:p.Met2731Val
NM_001354897.1:c.8167A>G	NP_001341826.1:p.Met2723Val
NM_001354898.1:c.8062A>G	NP_001341827.1:p.Met2688Val
NM_001354899.1:c.8053A>G	NP_001341828.1:p.Met2685Val
NM_001354900.1:c.8014A>G	NP_001341829.1:p.Met2672Val
NM_001354901.1:c.7960A>G	NP_001341830.1:p.Met2654Val
NM_001354902.1:c.7864A>G	NP_001341831.1:p.Met2622Val
NM_001354903.1:c.7834A>G	NP_001341832.1:p.Met2612Val
NM_001354904.1:c.7759A>G	NP_001341833.1:p.Met2587Val
NM_001354905.1:c.7657A>G	NP_001341834.1:p.Met2553Val
NM_001354906.1:c.7288A>G	NP_001341835.1:p.Met2430Val
NM_000038.6:c.8137A>G MANE Select	NP_000029.2:p.Met2713Val
NM_001127510.3:c.8137A>G	NP_001120982.1:p.Met2713Val
NM_001127511.3:c.8083A>G	NP_001120983.2:p.Met2695Val
NM_001354895.2:c.8137A>G	NP_001341824.1:p.Met2713Val
NM_001354896.2:c.8191A>G	NP_001341825.1:p.Met2731Val
NM_001354897.2:c.8167A>G	NP_001341826.1:p.Met2723Val
NM_001354898.2:c.8062A>G	NP_001341827.1:p.Met2688Val
NM_001354899.2:c.8053A>G	NP_001341828.1:p.Met2685Val
NM_001354900.2:c.8014A>G	NP_001341829.1:p.Met2672Val
NM_001354901.2:c.7960A>G	NP_001341830.1:p.Met2654Val
NM_001354902.2:c.7864A>G	NP_001341831.1:p.Met2622Val
NM_001354903.2:c.7834A>G	NP_001341832.1:p.Met2612Val
NM_001354904.2:c.7759A>G	NP_001341833.1:p.Met2587Val
NM_001354905.2:c.7657A>G	NP_001341834.1:p.Met2553Val
NM_001354906.2:c.7288A>G	NP_001341835.1:p.Met2430Val