Canonical Allele Identifier: CA16037960

Gene: APC

Linked Data

• ClinVar Variation Id: 470101
• ClinVar RCV Id: RCV000569478 ; RCV001293518 ; RCV003742791
• dbSNP Id: rs1554088567
• gnomAD v3: 5-112843248-A-T
• gnomAD v4: 5-112843248-A-T
• MyVariant Identifiers: chr5:g.112178945A>T (hg19) ; chr5:g.112843248A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843248A>T , CM000667.2:g.112843248A>T	GRCh38
NC_000005.9:g.112178945A>T , CM000667.1:g.112178945A>T	GRCh37
NC_000005.8:g.112206844A>T	NCBI36
NG_008481.4:g.155728A>T , LRG_130:g.155728A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7708A>T	ENSP00000473355.2:p.Ser2570Cys
ENST00000505350.2:c.*7660A>T	ENSP00000481752.1:n.*7660A>T
ENST00000507379.6:c.7600A>T	ENSP00000423224.2:p.Ser2534Cys
ENST00000509732.6:c.7654A>T	ENSP00000426541.2:p.Ser2552Cys
ENST00000512211.7:c.7654A>T	ENSP00000423828.3:p.Ser2552Cys
ENST00000257430.9:c.7654A>T MANE Select	ENSP00000257430.4:p.Ser2552Cys
ENST00000257430.8:c.7654A>T	ENSP00000257430.4:p.Ser2552Cys
ENST00000508376.6:c.7654A>T	ENSP00000427089.2:p.Ser2552Cys
ENST00000520401.1:c.231-13401A>T
NM_000038.5:c.7654A>T	NP_000029.2:p.Ser2552Cys
NM_001127510.2:c.7654A>T	NP_001120982.1:p.Ser2552Cys
NM_001127511.2:c.7600A>T	NP_001120983.2:p.Ser2534Cys
NM_001354895.1:c.7654A>T	NP_001341824.1:p.Ser2552Cys
NM_001354896.1:c.7708A>T	NP_001341825.1:p.Ser2570Cys
NM_001354897.1:c.7684A>T	NP_001341826.1:p.Ser2562Cys
NM_001354898.1:c.7579A>T	NP_001341827.1:p.Ser2527Cys
NM_001354899.1:c.7570A>T	NP_001341828.1:p.Ser2524Cys
NM_001354900.1:c.7531A>T	NP_001341829.1:p.Ser2511Cys
NM_001354901.1:c.7477A>T	NP_001341830.1:p.Ser2493Cys
NM_001354902.1:c.7381A>T	NP_001341831.1:p.Ser2461Cys
NM_001354903.1:c.7351A>T	NP_001341832.1:p.Ser2451Cys
NM_001354904.1:c.7276A>T	NP_001341833.1:p.Ser2426Cys
NM_001354905.1:c.7174A>T	NP_001341834.1:p.Ser2392Cys
NM_001354906.1:c.6805A>T	NP_001341835.1:p.Ser2269Cys
NM_000038.6:c.7654A>T MANE Select	NP_000029.2:p.Ser2552Cys
NM_001127510.3:c.7654A>T	NP_001120982.1:p.Ser2552Cys
NM_001127511.3:c.7600A>T	NP_001120983.2:p.Ser2534Cys
NM_001354895.2:c.7654A>T	NP_001341824.1:p.Ser2552Cys
NM_001354896.2:c.7708A>T	NP_001341825.1:p.Ser2570Cys
NM_001354897.2:c.7684A>T	NP_001341826.1:p.Ser2562Cys
NM_001354898.2:c.7579A>T	NP_001341827.1:p.Ser2527Cys
NM_001354899.2:c.7570A>T	NP_001341828.1:p.Ser2524Cys
NM_001354900.2:c.7531A>T	NP_001341829.1:p.Ser2511Cys
NM_001354901.2:c.7477A>T	NP_001341830.1:p.Ser2493Cys
NM_001354902.2:c.7381A>T	NP_001341831.1:p.Ser2461Cys
NM_001354903.2:c.7351A>T	NP_001341832.1:p.Ser2451Cys
NM_001354904.2:c.7276A>T	NP_001341833.1:p.Ser2426Cys
NM_001354905.2:c.7174A>T	NP_001341834.1:p.Ser2392Cys
NM_001354906.2:c.6805A>T	NP_001341835.1:p.Ser2269Cys