Canonical Allele Identifier: CA16025594

Gene: APC

Linked Data

• ClinVar Variation Id: 428139
• ClinVar RCV Id: RCV000491162 ; RCV001357824 ; RCV002523967 ; RCV003535778
• dbSNP Id: rs1114167580
• COSMIC: COSM5008258
• MyVariant Identifiers: chr5:g.112170861A>G (hg19) ; chr5:g.112835164A>G (hg38)
• PubMed: PMID:15459959 ; PMID:19196998 ; PMID:20223039 ; PMID:24599579

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835164A>G , CM000667.2:g.112835164A>G	GRCh38
NC_000005.9:g.112170861A>G , CM000667.1:g.112170861A>G	GRCh37
NC_000005.8:g.112198760A>G	NCBI36
NG_008481.4:g.147644A>G , LRG_130:g.147644A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1622A>G	ENSP00000484935.2:n.1622A>G
ENST00000504915.3:c.2011A>G	ENSP00000473355.2:p.Arg671Gly
ENST00000505350.2:c.*1963A>G	ENSP00000481752.1:n.*1963A>G
ENST00000507379.6:c.1903A>G	ENSP00000423224.2:p.Arg635Gly
ENST00000509732.6:c.1957A>G	ENSP00000426541.2:p.Arg653Gly
ENST00000512211.7:c.1957A>G	ENSP00000423828.3:p.Arg653Gly
ENST00000257430.9:c.1957A>G MANE Select	ENSP00000257430.4:p.Arg653Gly
ENST00000257430.8:c.1957A>G	ENSP00000257430.4:p.Arg653Gly
ENST00000502371.2:c.310A>G
ENST00000504915.2:c.646A>G	ENSP00000473355.1:p.Arg216Gly
ENST00000507379.5:c.1903A>G	ENSP00000423224.1:p.Arg635Gly
ENST00000508376.6:c.1957A>G	ENSP00000427089.2:p.Arg653Gly
ENST00000508624.5:c.*1279A>G	ENSP00000424265.1:n.*1279A>G
ENST00000512211.6:c.1957A>G	ENSP00000423828.2:p.Arg653Gly
ENST00000520401.1:c.230+6192A>G
NM_000038.5:c.1957A>G	NP_000029.2:p.Arg653Gly
NM_001127510.2:c.1957A>G	NP_001120982.1:p.Arg653Gly
NM_001127511.2:c.1903A>G	NP_001120983.2:p.Arg635Gly
NM_001354895.1:c.1957A>G	NP_001341824.1:p.Arg653Gly
NM_001354896.1:c.2011A>G	NP_001341825.1:p.Arg671Gly
NM_001354897.1:c.1987A>G	NP_001341826.1:p.Arg663Gly
NM_001354898.1:c.1882A>G	NP_001341827.1:p.Arg628Gly
NM_001354899.1:c.1873A>G	NP_001341828.1:p.Arg625Gly
NM_001354900.1:c.1834A>G	NP_001341829.1:p.Arg612Gly
NM_001354901.1:c.1780A>G	NP_001341830.1:p.Arg594Gly
NM_001354902.1:c.1684A>G	NP_001341831.1:p.Arg562Gly
NM_001354903.1:c.1654A>G	NP_001341832.1:p.Arg552Gly
NM_001354904.1:c.1579A>G	NP_001341833.1:p.Arg527Gly
NM_001354905.1:c.1477A>G	NP_001341834.1:p.Arg493Gly
NM_001354906.1:c.1108A>G	NP_001341835.1:p.Arg370Gly
NM_000038.6:c.1957A>G MANE Select	NP_000029.2:p.Arg653Gly
NM_001127510.3:c.1957A>G	NP_001120982.1:p.Arg653Gly
NM_001127511.3:c.1903A>G	NP_001120983.2:p.Arg635Gly
NM_001354895.2:c.1957A>G	NP_001341824.1:p.Arg653Gly
NM_001354896.2:c.2011A>G	NP_001341825.1:p.Arg671Gly
NM_001354897.2:c.1987A>G	NP_001341826.1:p.Arg663Gly
NM_001354898.2:c.1882A>G	NP_001341827.1:p.Arg628Gly
NM_001354899.2:c.1873A>G	NP_001341828.1:p.Arg625Gly
NM_001354900.2:c.1834A>G	NP_001341829.1:p.Arg612Gly
NM_001354901.2:c.1780A>G	NP_001341830.1:p.Arg594Gly
NM_001354902.2:c.1684A>G	NP_001341831.1:p.Arg562Gly
NM_001354903.2:c.1654A>G	NP_001341832.1:p.Arg552Gly
NM_001354904.2:c.1579A>G	NP_001341833.1:p.Arg527Gly
NM_001354905.2:c.1477A>G	NP_001341834.1:p.Arg493Gly
NM_001354906.2:c.1108A>G	NP_001341835.1:p.Arg370Gly