Canonical Allele Identifier: CA16611743

Gene: APC

Linked Data

• ClinVar Variation Id: 416744
• ClinVar RCV Id: RCV000586267 ; RCV000775747 ; RCV004002219 ; RCV003424039 ; RCV003651910
• dbSNP Id: rs1060504883
• gnomAD v4: 5-112843290-A-C
• MyVariant Identifiers: chr5:g.112178987A>C (hg19) ; chr5:g.112843290A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843290A>C , CM000667.2:g.112843290A>C	GRCh38
NC_000005.9:g.112178987A>C , CM000667.1:g.112178987A>C	GRCh37
NC_000005.8:g.112206886A>C	NCBI36
NG_008481.4:g.155770A>C , LRG_130:g.155770A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7750A>C	ENSP00000473355.2:p.Arg2584=
ENST00000505350.2:c.*7702A>C	ENSP00000481752.1:n.*7702A>C
ENST00000507379.6:c.7642A>C	ENSP00000423224.2:p.Arg2548=
ENST00000509732.6:c.7696A>C	ENSP00000426541.2:p.Arg2566=
ENST00000512211.7:c.7696A>C	ENSP00000423828.3:p.Arg2566=
ENST00000257430.9:c.7696A>C MANE Select	ENSP00000257430.4:p.Arg2566=
ENST00000257430.8:c.7696A>C	ENSP00000257430.4:p.Arg2566=
ENST00000508376.6:c.7696A>C	ENSP00000427089.2:p.Arg2566=
ENST00000520401.1:c.231-13359A>C
NM_000038.5:c.7696A>C	NP_000029.2:p.Arg2566=
NM_001127510.2:c.7696A>C	NP_001120982.1:p.Arg2566=
NM_001127511.2:c.7642A>C	NP_001120983.2:p.Arg2548=
NM_001354895.1:c.7696A>C	NP_001341824.1:p.Arg2566=
NM_001354896.1:c.7750A>C	NP_001341825.1:p.Arg2584=
NM_001354897.1:c.7726A>C	NP_001341826.1:p.Arg2576=
NM_001354898.1:c.7621A>C	NP_001341827.1:p.Arg2541=
NM_001354899.1:c.7612A>C	NP_001341828.1:p.Arg2538=
NM_001354900.1:c.7573A>C	NP_001341829.1:p.Arg2525=
NM_001354901.1:c.7519A>C	NP_001341830.1:p.Arg2507=
NM_001354902.1:c.7423A>C	NP_001341831.1:p.Arg2475=
NM_001354903.1:c.7393A>C	NP_001341832.1:p.Arg2465=
NM_001354904.1:c.7318A>C	NP_001341833.1:p.Arg2440=
NM_001354905.1:c.7216A>C	NP_001341834.1:p.Arg2406=
NM_001354906.1:c.6847A>C	NP_001341835.1:p.Arg2283=
NM_000038.6:c.7696A>C MANE Select	NP_000029.2:p.Arg2566=
NM_001127510.3:c.7696A>C	NP_001120982.1:p.Arg2566=
NM_001127511.3:c.7642A>C	NP_001120983.2:p.Arg2548=
NM_001354895.2:c.7696A>C	NP_001341824.1:p.Arg2566=
NM_001354896.2:c.7750A>C	NP_001341825.1:p.Arg2584=
NM_001354897.2:c.7726A>C	NP_001341826.1:p.Arg2576=
NM_001354898.2:c.7621A>C	NP_001341827.1:p.Arg2541=
NM_001354899.2:c.7612A>C	NP_001341828.1:p.Arg2538=
NM_001354900.2:c.7573A>C	NP_001341829.1:p.Arg2525=
NM_001354901.2:c.7519A>C	NP_001341830.1:p.Arg2507=
NM_001354902.2:c.7423A>C	NP_001341831.1:p.Arg2475=
NM_001354903.2:c.7393A>C	NP_001341832.1:p.Arg2465=
NM_001354904.2:c.7318A>C	NP_001341833.1:p.Arg2440=
NM_001354905.2:c.7216A>C	NP_001341834.1:p.Arg2406=
NM_001354906.2:c.6847A>C	NP_001341835.1:p.Arg2283=