Canonical Allele Identifier: CA16038441

Gene: APC

Linked Data

• ClinVar Variation Id: 949059
• ClinVar RCV Id: RCV003650741
• dbSNP Id: rs1766586856
• COSMIC: COSM5727471
• MyVariant Identifiers: chr5:g.112179165G>A (hg19) ; chr5:g.112843468G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843468G>A , CM000667.2:g.112843468G>A	GRCh38
NC_000005.9:g.112179165G>A , CM000667.1:g.112179165G>A	GRCh37
NC_000005.8:g.112207064G>A	NCBI36
NG_008481.4:g.155948G>A , LRG_130:g.155948G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7928G>A	ENSP00000473355.2:p.Ser2643Asn
ENST00000505350.2:c.*7880G>A	ENSP00000481752.1:n.*7880G>A
ENST00000507379.6:c.7820G>A	ENSP00000423224.2:p.Ser2607Asn
ENST00000509732.6:c.7874G>A	ENSP00000426541.2:p.Ser2625Asn
ENST00000512211.7:c.7874G>A	ENSP00000423828.3:p.Ser2625Asn
ENST00000257430.9:c.7874G>A MANE Select	ENSP00000257430.4:p.Ser2625Asn
ENST00000257430.8:c.7874G>A	ENSP00000257430.4:p.Ser2625Asn
ENST00000508376.6:c.7874G>A	ENSP00000427089.2:p.Ser2625Asn
ENST00000520401.1:c.231-13181G>A
NM_000038.5:c.7874G>A	NP_000029.2:p.Ser2625Asn
NM_001127510.2:c.7874G>A	NP_001120982.1:p.Ser2625Asn
NM_001127511.2:c.7820G>A	NP_001120983.2:p.Ser2607Asn
NM_001354895.1:c.7874G>A	NP_001341824.1:p.Ser2625Asn
NM_001354896.1:c.7928G>A	NP_001341825.1:p.Ser2643Asn
NM_001354897.1:c.7904G>A	NP_001341826.1:p.Ser2635Asn
NM_001354898.1:c.7799G>A	NP_001341827.1:p.Ser2600Asn
NM_001354899.1:c.7790G>A	NP_001341828.1:p.Ser2597Asn
NM_001354900.1:c.7751G>A	NP_001341829.1:p.Ser2584Asn
NM_001354901.1:c.7697G>A	NP_001341830.1:p.Ser2566Asn
NM_001354902.1:c.7601G>A	NP_001341831.1:p.Ser2534Asn
NM_001354903.1:c.7571G>A	NP_001341832.1:p.Ser2524Asn
NM_001354904.1:c.7496G>A	NP_001341833.1:p.Ser2499Asn
NM_001354905.1:c.7394G>A	NP_001341834.1:p.Ser2465Asn
NM_001354906.1:c.7025G>A	NP_001341835.1:p.Ser2342Asn
NM_000038.6:c.7874G>A MANE Select	NP_000029.2:p.Ser2625Asn
NM_001127510.3:c.7874G>A	NP_001120982.1:p.Ser2625Asn
NM_001127511.3:c.7820G>A	NP_001120983.2:p.Ser2607Asn
NM_001354895.2:c.7874G>A	NP_001341824.1:p.Ser2625Asn
NM_001354896.2:c.7928G>A	NP_001341825.1:p.Ser2643Asn
NM_001354897.2:c.7904G>A	NP_001341826.1:p.Ser2635Asn
NM_001354898.2:c.7799G>A	NP_001341827.1:p.Ser2600Asn
NM_001354899.2:c.7790G>A	NP_001341828.1:p.Ser2597Asn
NM_001354900.2:c.7751G>A	NP_001341829.1:p.Ser2584Asn
NM_001354901.2:c.7697G>A	NP_001341830.1:p.Ser2566Asn
NM_001354902.2:c.7601G>A	NP_001341831.1:p.Ser2534Asn
NM_001354903.2:c.7571G>A	NP_001341832.1:p.Ser2524Asn
NM_001354904.2:c.7496G>A	NP_001341833.1:p.Ser2499Asn
NM_001354905.2:c.7394G>A	NP_001341834.1:p.Ser2465Asn
NM_001354906.2:c.7025G>A	NP_001341835.1:p.Ser2342Asn