Canonical Allele Identifier: CA16037770

Gene: APC

Linked Data

• ClinVar Variation Id: 2677520
• ClinVar RCV Id: RCV003471656
• MyVariant Identifiers: chr5:g.112178854A>C (hg19) ; chr5:g.112843157A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843157A>C , CM000667.2:g.112843157A>C	GRCh38
NC_000005.9:g.112178854A>C , CM000667.1:g.112178854A>C	GRCh37
NC_000005.8:g.112206753A>C	NCBI36
NG_008481.4:g.155637A>C , LRG_130:g.155637A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7617A>C	ENSP00000473355.2:p.Arg2539Ser
ENST00000505350.2:c.*7569A>C	ENSP00000481752.1:n.*7569A>C
ENST00000507379.6:c.7509A>C	ENSP00000423224.2:p.Arg2503Ser
ENST00000509732.6:c.7563A>C	ENSP00000426541.2:p.Arg2521Ser
ENST00000512211.7:c.7563A>C	ENSP00000423828.3:p.Arg2521Ser
ENST00000257430.9:c.7563A>C MANE Select	ENSP00000257430.4:p.Arg2521Ser
ENST00000257430.8:c.7563A>C	ENSP00000257430.4:p.Arg2521Ser
ENST00000508376.6:c.7563A>C	ENSP00000427089.2:p.Arg2521Ser
ENST00000520401.1:c.231-13492A>C
NM_000038.5:c.7563A>C	NP_000029.2:p.Arg2521Ser
NM_001127510.2:c.7563A>C	NP_001120982.1:p.Arg2521Ser
NM_001127511.2:c.7509A>C	NP_001120983.2:p.Arg2503Ser
NM_001354895.1:c.7563A>C	NP_001341824.1:p.Arg2521Ser
NM_001354896.1:c.7617A>C	NP_001341825.1:p.Arg2539Ser
NM_001354897.1:c.7593A>C	NP_001341826.1:p.Arg2531Ser
NM_001354898.1:c.7488A>C	NP_001341827.1:p.Arg2496Ser
NM_001354899.1:c.7479A>C	NP_001341828.1:p.Arg2493Ser
NM_001354900.1:c.7440A>C	NP_001341829.1:p.Arg2480Ser
NM_001354901.1:c.7386A>C	NP_001341830.1:p.Arg2462Ser
NM_001354902.1:c.7290A>C	NP_001341831.1:p.Arg2430Ser
NM_001354903.1:c.7260A>C	NP_001341832.1:p.Arg2420Ser
NM_001354904.1:c.7185A>C	NP_001341833.1:p.Arg2395Ser
NM_001354905.1:c.7083A>C	NP_001341834.1:p.Arg2361Ser
NM_001354906.1:c.6714A>C	NP_001341835.1:p.Arg2238Ser
NM_000038.6:c.7563A>C MANE Select	NP_000029.2:p.Arg2521Ser
NM_001127510.3:c.7563A>C	NP_001120982.1:p.Arg2521Ser
NM_001127511.3:c.7509A>C	NP_001120983.2:p.Arg2503Ser
NM_001354895.2:c.7563A>C	NP_001341824.1:p.Arg2521Ser
NM_001354896.2:c.7617A>C	NP_001341825.1:p.Arg2539Ser
NM_001354897.2:c.7593A>C	NP_001341826.1:p.Arg2531Ser
NM_001354898.2:c.7488A>C	NP_001341827.1:p.Arg2496Ser
NM_001354899.2:c.7479A>C	NP_001341828.1:p.Arg2493Ser
NM_001354900.2:c.7440A>C	NP_001341829.1:p.Arg2480Ser
NM_001354901.2:c.7386A>C	NP_001341830.1:p.Arg2462Ser
NM_001354902.2:c.7290A>C	NP_001341831.1:p.Arg2430Ser
NM_001354903.2:c.7260A>C	NP_001341832.1:p.Arg2420Ser
NM_001354904.2:c.7185A>C	NP_001341833.1:p.Arg2395Ser
NM_001354905.2:c.7083A>C	NP_001341834.1:p.Arg2361Ser
NM_001354906.2:c.6714A>C	NP_001341835.1:p.Arg2238Ser