Canonical Allele Identifier: CA16037539

Gene: APC

Linked Data

• ClinVar Variation Id: 1758948
• ClinVar RCV Id: RCV002385089
• dbSNP Id: rs2149987240
• gnomAD v4: 5-112843042-T-C
• MyVariant Identifiers: chr5:g.112178739T>C (hg19) ; chr5:g.112843042T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843042T>C , CM000667.2:g.112843042T>C	GRCh38
NC_000005.9:g.112178739T>C , CM000667.1:g.112178739T>C	GRCh37
NC_000005.8:g.112206638T>C	NCBI36
NG_008481.4:g.155522T>C , LRG_130:g.155522T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7502T>C	ENSP00000473355.2:p.Val2501Ala
ENST00000505350.2:c.*7454T>C	ENSP00000481752.1:n.*7454T>C
ENST00000507379.6:c.7394T>C	ENSP00000423224.2:p.Val2465Ala
ENST00000509732.6:c.7448T>C	ENSP00000426541.2:p.Val2483Ala
ENST00000512211.7:c.7448T>C	ENSP00000423828.3:p.Val2483Ala
ENST00000257430.9:c.7448T>C MANE Select	ENSP00000257430.4:p.Val2483Ala
ENST00000257430.8:c.7448T>C	ENSP00000257430.4:p.Val2483Ala
ENST00000508376.6:c.7448T>C	ENSP00000427089.2:p.Val2483Ala
ENST00000520401.1:c.231-13607T>C
NM_000038.5:c.7448T>C	NP_000029.2:p.Val2483Ala
NM_001127510.2:c.7448T>C	NP_001120982.1:p.Val2483Ala
NM_001127511.2:c.7394T>C	NP_001120983.2:p.Val2465Ala
NM_001354895.1:c.7448T>C	NP_001341824.1:p.Val2483Ala
NM_001354896.1:c.7502T>C	NP_001341825.1:p.Val2501Ala
NM_001354897.1:c.7478T>C	NP_001341826.1:p.Val2493Ala
NM_001354898.1:c.7373T>C	NP_001341827.1:p.Val2458Ala
NM_001354899.1:c.7364T>C	NP_001341828.1:p.Val2455Ala
NM_001354900.1:c.7325T>C	NP_001341829.1:p.Val2442Ala
NM_001354901.1:c.7271T>C	NP_001341830.1:p.Val2424Ala
NM_001354902.1:c.7175T>C	NP_001341831.1:p.Val2392Ala
NM_001354903.1:c.7145T>C	NP_001341832.1:p.Val2382Ala
NM_001354904.1:c.7070T>C	NP_001341833.1:p.Val2357Ala
NM_001354905.1:c.6968T>C	NP_001341834.1:p.Val2323Ala
NM_001354906.1:c.6599T>C	NP_001341835.1:p.Val2200Ala
NM_000038.6:c.7448T>C MANE Select	NP_000029.2:p.Val2483Ala
NM_001127510.3:c.7448T>C	NP_001120982.1:p.Val2483Ala
NM_001127511.3:c.7394T>C	NP_001120983.2:p.Val2465Ala
NM_001354895.2:c.7448T>C	NP_001341824.1:p.Val2483Ala
NM_001354896.2:c.7502T>C	NP_001341825.1:p.Val2501Ala
NM_001354897.2:c.7478T>C	NP_001341826.1:p.Val2493Ala
NM_001354898.2:c.7373T>C	NP_001341827.1:p.Val2458Ala
NM_001354899.2:c.7364T>C	NP_001341828.1:p.Val2455Ala
NM_001354900.2:c.7325T>C	NP_001341829.1:p.Val2442Ala
NM_001354901.2:c.7271T>C	NP_001341830.1:p.Val2424Ala
NM_001354902.2:c.7175T>C	NP_001341831.1:p.Val2392Ala
NM_001354903.2:c.7145T>C	NP_001341832.1:p.Val2382Ala
NM_001354904.2:c.7070T>C	NP_001341833.1:p.Val2357Ala
NM_001354905.2:c.6968T>C	NP_001341834.1:p.Val2323Ala
NM_001354906.2:c.6599T>C	NP_001341835.1:p.Val2200Ala