Canonical Allele Identifier: CA445758951

Gene: APC

Linked Data

• ClinVar Variation Id: 482311
• ClinVar RCV Id: RCV000564051 ; RCV003335499
• dbSNP Id: rs1114167580
• MyVariant Identifiers: chr5:g.112170861A>C (hg19) ; chr5:g.112835164A>C (hg38)
• PubMed: PMID:15459959 ; PMID:20223039

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1622A>C	ENSP00000484935.2:n.1622A>C
ENST00000504915.3:c.2011A>C	ENSP00000473355.2:p.Arg671=
ENST00000505350.2:c.*1963A>C	ENSP00000481752.1:n.*1963A>C
ENST00000507379.6:c.1903A>C	ENSP00000423224.2:p.Arg635=
ENST00000509732.6:c.1957A>C	ENSP00000426541.2:p.Arg653=
ENST00000512211.7:c.1957A>C	ENSP00000423828.3:p.Arg653=
ENST00000257430.9:c.1957A>C MANE Select	ENSP00000257430.4:p.Arg653=
ENST00000257430.8:c.1957A>C	ENSP00000257430.4:p.Arg653=
ENST00000502371.2:c.310A>C
ENST00000504915.2:c.646A>C	ENSP00000473355.1:p.Arg216=
ENST00000507379.5:c.1903A>C	ENSP00000423224.1:p.Arg635=
ENST00000508376.6:c.1957A>C	ENSP00000427089.2:p.Arg653=
ENST00000508624.5:c.*1279A>C	ENSP00000424265.1:n.*1279A>C
ENST00000512211.6:c.1957A>C	ENSP00000423828.2:p.Arg653=
ENST00000520401.1:c.230+6192A>C
NM_000038.5:c.1957A>C	NP_000029.2:p.Arg653=
NM_001127510.2:c.1957A>C	NP_001120982.1:p.Arg653=
NM_001127511.2:c.1903A>C	NP_001120983.2:p.Arg635=
NM_001354895.1:c.1957A>C	NP_001341824.1:p.Arg653=
NM_001354896.1:c.2011A>C	NP_001341825.1:p.Arg671=
NM_001354897.1:c.1987A>C	NP_001341826.1:p.Arg663=
NM_001354898.1:c.1882A>C	NP_001341827.1:p.Arg628=
NM_001354899.1:c.1873A>C	NP_001341828.1:p.Arg625=
NM_001354900.1:c.1834A>C	NP_001341829.1:p.Arg612=
NM_001354901.1:c.1780A>C	NP_001341830.1:p.Arg594=
NM_001354902.1:c.1684A>C	NP_001341831.1:p.Arg562=
NM_001354903.1:c.1654A>C	NP_001341832.1:p.Arg552=
NM_001354904.1:c.1579A>C	NP_001341833.1:p.Arg527=
NM_001354905.1:c.1477A>C	NP_001341834.1:p.Arg493=
NM_001354906.1:c.1108A>C	NP_001341835.1:p.Arg370=
NM_000038.6:c.1957A>C MANE Select	NP_000029.2:p.Arg653=
NM_001127510.3:c.1957A>C	NP_001120982.1:p.Arg653=
NM_001127511.3:c.1903A>C	NP_001120983.2:p.Arg635=
NM_001354895.2:c.1957A>C	NP_001341824.1:p.Arg653=
NM_001354896.2:c.2011A>C	NP_001341825.1:p.Arg671=
NM_001354897.2:c.1987A>C	NP_001341826.1:p.Arg663=
NM_001354898.2:c.1882A>C	NP_001341827.1:p.Arg628=
NM_001354899.2:c.1873A>C	NP_001341828.1:p.Arg625=
NM_001354900.2:c.1834A>C	NP_001341829.1:p.Arg612=
NM_001354901.2:c.1780A>C	NP_001341830.1:p.Arg594=
NM_001354902.2:c.1684A>C	NP_001341831.1:p.Arg562=
NM_001354903.2:c.1654A>C	NP_001341832.1:p.Arg552=
NM_001354904.2:c.1579A>C	NP_001341833.1:p.Arg527=
NM_001354905.2:c.1477A>C	NP_001341834.1:p.Arg493=
NM_001354906.2:c.1108A>C	NP_001341835.1:p.Arg370=