Canonical Allele Identifier: CA446210699

Gene: APC

Linked Data

• ClinVar Variation Id: 516990
• ClinVar RCV Id: RCV000610713 ; RCV002385949 ; RCV003653231
• dbSNP Id: rs780091029
• gnomAD v4: 5-112843040-A-C
• MyVariant Identifiers: chr5:g.112178737A>C (hg19) ; chr5:g.112843040A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843040A>C , CM000667.2:g.112843040A>C	GRCh38
NC_000005.9:g.112178737A>C , CM000667.1:g.112178737A>C	GRCh37
NC_000005.8:g.112206636A>C	NCBI36
NG_008481.4:g.155520A>C , LRG_130:g.155520A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7500A>C	ENSP00000473355.2:p.Pro2500=
ENST00000505350.2:c.*7452A>C	ENSP00000481752.1:n.*7452A>C
ENST00000507379.6:c.7392A>C	ENSP00000423224.2:p.Pro2464=
ENST00000509732.6:c.7446A>C	ENSP00000426541.2:p.Pro2482=
ENST00000512211.7:c.7446A>C	ENSP00000423828.3:p.Pro2482=
ENST00000257430.9:c.7446A>C MANE Select	ENSP00000257430.4:p.Pro2482=
ENST00000257430.8:c.7446A>C	ENSP00000257430.4:p.Pro2482=
ENST00000508376.6:c.7446A>C	ENSP00000427089.2:p.Pro2482=
ENST00000520401.1:c.231-13609A>C
NM_000038.5:c.7446A>C	NP_000029.2:p.Pro2482=
NM_001127510.2:c.7446A>C	NP_001120982.1:p.Pro2482=
NM_001127511.2:c.7392A>C	NP_001120983.2:p.Pro2464=
NM_001354895.1:c.7446A>C	NP_001341824.1:p.Pro2482=
NM_001354896.1:c.7500A>C	NP_001341825.1:p.Pro2500=
NM_001354897.1:c.7476A>C	NP_001341826.1:p.Pro2492=
NM_001354898.1:c.7371A>C	NP_001341827.1:p.Pro2457=
NM_001354899.1:c.7362A>C	NP_001341828.1:p.Pro2454=
NM_001354900.1:c.7323A>C	NP_001341829.1:p.Pro2441=
NM_001354901.1:c.7269A>C	NP_001341830.1:p.Pro2423=
NM_001354902.1:c.7173A>C	NP_001341831.1:p.Pro2391=
NM_001354903.1:c.7143A>C	NP_001341832.1:p.Pro2381=
NM_001354904.1:c.7068A>C	NP_001341833.1:p.Pro2356=
NM_001354905.1:c.6966A>C	NP_001341834.1:p.Pro2322=
NM_001354906.1:c.6597A>C	NP_001341835.1:p.Pro2199=
NM_000038.6:c.7446A>C MANE Select	NP_000029.2:p.Pro2482=
NM_001127510.3:c.7446A>C	NP_001120982.1:p.Pro2482=
NM_001127511.3:c.7392A>C	NP_001120983.2:p.Pro2464=
NM_001354895.2:c.7446A>C	NP_001341824.1:p.Pro2482=
NM_001354896.2:c.7500A>C	NP_001341825.1:p.Pro2500=
NM_001354897.2:c.7476A>C	NP_001341826.1:p.Pro2492=
NM_001354898.2:c.7371A>C	NP_001341827.1:p.Pro2457=
NM_001354899.2:c.7362A>C	NP_001341828.1:p.Pro2454=
NM_001354900.2:c.7323A>C	NP_001341829.1:p.Pro2441=
NM_001354901.2:c.7269A>C	NP_001341830.1:p.Pro2423=
NM_001354902.2:c.7173A>C	NP_001341831.1:p.Pro2391=
NM_001354903.2:c.7143A>C	NP_001341832.1:p.Pro2381=
NM_001354904.2:c.7068A>C	NP_001341833.1:p.Pro2356=
NM_001354905.2:c.6966A>C	NP_001341834.1:p.Pro2322=
NM_001354906.2:c.6597A>C	NP_001341835.1:p.Pro2199=