Canonical Allele Identifier: CA16022735

Gene: APC

Linked Data

• ClinVar Variation Id: 470045
• ClinVar RCV Id: RCV000583903 ; RCV000602624 ; RCV003999413 ; RCV003742764
• dbSNP Id: rs1235428754
• MyVariant Identifiers: chr5:g.112116593G>A (hg19) ; chr5:g.112780896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112780896G>A , CM000667.2:g.112780896G>A	GRCh38
NC_000005.9:g.112116593G>A , CM000667.1:g.112116593G>A	GRCh37
NC_000005.8:g.112144492G>A	NCBI36
NG_008481.4:g.93376G>A , LRG_130:g.93376G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.638G>A	ENSP00000484935.2:p.Arg213Gln
ENST00000504915.3:c.638G>A	ENSP00000473355.2:p.Arg213Gln
ENST00000505084.2:n.694G>A
ENST00000505350.2:c.*644G>A	ENSP00000481752.1:n.*644G>A
ENST00000507379.6:c.668G>A	ENSP00000423224.2:p.Arg223Gln
ENST00000509732.6:c.638G>A	ENSP00000426541.2:p.Arg213Gln
ENST00000512211.7:c.638G>A	ENSP00000423828.3:p.Arg213Gln
ENST00000257430.9:c.638G>A MANE Select	ENSP00000257430.4:p.Arg213Gln
ENST00000257430.8:c.638G>A	ENSP00000257430.4:p.Arg213Gln
ENST00000507379.5:c.668G>A	ENSP00000423224.1:p.Arg223Gln
ENST00000508376.6:c.638G>A	ENSP00000427089.2:p.Arg213Gln
ENST00000508624.5:c.638G>A	ENSP00000424265.1:p.Arg213Gln
ENST00000512211.6:c.638G>A	ENSP00000423828.2:p.Arg213Gln
NM_000038.5:c.638G>A	NP_000029.2:p.Arg213Gln
NM_001127510.2:c.638G>A	NP_001120982.1:p.Arg213Gln
NM_001127511.2:c.668G>A	NP_001120983.2:p.Arg223Gln
NM_001354895.1:c.638G>A	NP_001341824.1:p.Arg213Gln
NM_001354896.1:c.638G>A	NP_001341825.1:p.Arg213Gln
NM_001354897.1:c.668G>A	NP_001341826.1:p.Arg223Gln
NM_001354898.1:c.563G>A	NP_001341827.1:p.Arg188Gln
NM_001354899.1:c.638G>A	NP_001341828.1:p.Arg213Gln
NM_001354900.1:c.461G>A	NP_001341829.1:p.Arg154Gln
NM_001354901.1:c.461G>A	NP_001341830.1:p.Arg154Gln
NM_001354902.1:c.668G>A	NP_001341831.1:p.Arg223Gln
NM_001354903.1:c.638G>A	NP_001341832.1:p.Arg213Gln
NM_001354904.1:c.563G>A	NP_001341833.1:p.Arg188Gln
NM_001354905.1:c.461G>A	NP_001341834.1:p.Arg154Gln
NM_001354906.1:c.-398G>A	NP_001341835.1:n.-398G>A
NM_000038.6:c.638G>A MANE Select	NP_000029.2:p.Arg213Gln
NM_001127510.3:c.638G>A	NP_001120982.1:p.Arg213Gln
NM_001127511.3:c.668G>A	NP_001120983.2:p.Arg223Gln
NM_001354895.2:c.638G>A	NP_001341824.1:p.Arg213Gln
NM_001354896.2:c.638G>A	NP_001341825.1:p.Arg213Gln
NM_001354897.2:c.668G>A	NP_001341826.1:p.Arg223Gln
NM_001354898.2:c.563G>A	NP_001341827.1:p.Arg188Gln
NM_001354899.2:c.638G>A	NP_001341828.1:p.Arg213Gln
NM_001354900.2:c.461G>A	NP_001341829.1:p.Arg154Gln
NM_001354901.2:c.461G>A	NP_001341830.1:p.Arg154Gln
NM_001354902.2:c.668G>A	NP_001341831.1:p.Arg223Gln
NM_001354903.2:c.638G>A	NP_001341832.1:p.Arg213Gln
NM_001354904.2:c.563G>A	NP_001341833.1:p.Arg188Gln
NM_001354905.2:c.461G>A	NP_001341834.1:p.Arg154Gln
NM_001354906.2:c.-398G>A	NP_001341835.1:n.-398G>A