Canonical Allele Identifier: CA014373

Gene: APC

Linked Data

• ClinVar Variation Id: 82636
• ClinVar RCV Id: RCV000073625
• dbSNP Id: rs80277939
• MyVariant Identifiers: chr5:g.112179428A>C (hg19) ; chr5:g.112843731A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8191A>C	ENSP00000473355.2:p.Met2731Leu
ENST00000505350.2:c.*8143A>C	ENSP00000481752.1:n.*8143A>C
ENST00000507379.6:c.8083A>C	ENSP00000423224.2:p.Met2695Leu
ENST00000509732.6:c.8137A>C	ENSP00000426541.2:p.Met2713Leu
ENST00000512211.7:c.8137A>C	ENSP00000423828.3:p.Met2713Leu
ENST00000257430.9:c.8137A>C MANE Select	ENSP00000257430.4:p.Met2713Leu
ENST00000257430.8:c.8137A>C	ENSP00000257430.4:p.Met2713Leu
ENST00000508376.6:c.8137A>C	ENSP00000427089.2:p.Met2713Leu
ENST00000520401.1:c.231-12918A>C
NM_000038.5:c.8137A>C	NP_000029.2:p.Met2713Leu
NM_001127510.2:c.8137A>C	NP_001120982.1:p.Met2713Leu
NM_001127511.2:c.8083A>C	NP_001120983.2:p.Met2695Leu
NM_001354895.1:c.8137A>C	NP_001341824.1:p.Met2713Leu
NM_001354896.1:c.8191A>C	NP_001341825.1:p.Met2731Leu
NM_001354897.1:c.8167A>C	NP_001341826.1:p.Met2723Leu
NM_001354898.1:c.8062A>C	NP_001341827.1:p.Met2688Leu
NM_001354899.1:c.8053A>C	NP_001341828.1:p.Met2685Leu
NM_001354900.1:c.8014A>C	NP_001341829.1:p.Met2672Leu
NM_001354901.1:c.7960A>C	NP_001341830.1:p.Met2654Leu
NM_001354902.1:c.7864A>C	NP_001341831.1:p.Met2622Leu
NM_001354903.1:c.7834A>C	NP_001341832.1:p.Met2612Leu
NM_001354904.1:c.7759A>C	NP_001341833.1:p.Met2587Leu
NM_001354905.1:c.7657A>C	NP_001341834.1:p.Met2553Leu
NM_001354906.1:c.7288A>C	NP_001341835.1:p.Met2430Leu
NM_000038.6:c.8137A>C MANE Select	NP_000029.2:p.Met2713Leu
NM_001127510.3:c.8137A>C	NP_001120982.1:p.Met2713Leu
NM_001127511.3:c.8083A>C	NP_001120983.2:p.Met2695Leu
NM_001354895.2:c.8137A>C	NP_001341824.1:p.Met2713Leu
NM_001354896.2:c.8191A>C	NP_001341825.1:p.Met2731Leu
NM_001354897.2:c.8167A>C	NP_001341826.1:p.Met2723Leu
NM_001354898.2:c.8062A>C	NP_001341827.1:p.Met2688Leu
NM_001354899.2:c.8053A>C	NP_001341828.1:p.Met2685Leu
NM_001354900.2:c.8014A>C	NP_001341829.1:p.Met2672Leu
NM_001354901.2:c.7960A>C	NP_001341830.1:p.Met2654Leu
NM_001354902.2:c.7864A>C	NP_001341831.1:p.Met2622Leu
NM_001354903.2:c.7834A>C	NP_001341832.1:p.Met2612Leu
NM_001354904.2:c.7759A>C	NP_001341833.1:p.Met2587Leu
NM_001354905.2:c.7657A>C	NP_001341834.1:p.Met2553Leu
NM_001354906.2:c.7288A>C	NP_001341835.1:p.Met2430Leu