Canonical Allele Identifier: CA16038038

Gene: APC

Linked Data

• ClinVar Variation Id: 1039868
• ClinVar RCV Id: RCV002242334
• dbSNP Id: rs1766542279
• MyVariant Identifiers: chr5:g.112178983G>C (hg19) ; chr5:g.112843286G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843286G>C , CM000667.2:g.112843286G>C	GRCh38
NC_000005.9:g.112178983G>C , CM000667.1:g.112178983G>C	GRCh37
NC_000005.8:g.112206882G>C	NCBI36
NG_008481.4:g.155766G>C , LRG_130:g.155766G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7746G>C	ENSP00000473355.2:p.Trp2582Cys
ENST00000505350.2:c.*7698G>C	ENSP00000481752.1:n.*7698G>C
ENST00000507379.6:c.7638G>C	ENSP00000423224.2:p.Trp2546Cys
ENST00000509732.6:c.7692G>C	ENSP00000426541.2:p.Trp2564Cys
ENST00000512211.7:c.7692G>C	ENSP00000423828.3:p.Trp2564Cys
ENST00000257430.9:c.7692G>C MANE Select	ENSP00000257430.4:p.Trp2564Cys
ENST00000257430.8:c.7692G>C	ENSP00000257430.4:p.Trp2564Cys
ENST00000508376.6:c.7692G>C	ENSP00000427089.2:p.Trp2564Cys
ENST00000520401.1:c.231-13363G>C
NM_000038.5:c.7692G>C	NP_000029.2:p.Trp2564Cys
NM_001127510.2:c.7692G>C	NP_001120982.1:p.Trp2564Cys
NM_001127511.2:c.7638G>C	NP_001120983.2:p.Trp2546Cys
NM_001354895.1:c.7692G>C	NP_001341824.1:p.Trp2564Cys
NM_001354896.1:c.7746G>C	NP_001341825.1:p.Trp2582Cys
NM_001354897.1:c.7722G>C	NP_001341826.1:p.Trp2574Cys
NM_001354898.1:c.7617G>C	NP_001341827.1:p.Trp2539Cys
NM_001354899.1:c.7608G>C	NP_001341828.1:p.Trp2536Cys
NM_001354900.1:c.7569G>C	NP_001341829.1:p.Trp2523Cys
NM_001354901.1:c.7515G>C	NP_001341830.1:p.Trp2505Cys
NM_001354902.1:c.7419G>C	NP_001341831.1:p.Trp2473Cys
NM_001354903.1:c.7389G>C	NP_001341832.1:p.Trp2463Cys
NM_001354904.1:c.7314G>C	NP_001341833.1:p.Trp2438Cys
NM_001354905.1:c.7212G>C	NP_001341834.1:p.Trp2404Cys
NM_001354906.1:c.6843G>C	NP_001341835.1:p.Trp2281Cys
NM_000038.6:c.7692G>C MANE Select	NP_000029.2:p.Trp2564Cys
NM_001127510.3:c.7692G>C	NP_001120982.1:p.Trp2564Cys
NM_001127511.3:c.7638G>C	NP_001120983.2:p.Trp2546Cys
NM_001354895.2:c.7692G>C	NP_001341824.1:p.Trp2564Cys
NM_001354896.2:c.7746G>C	NP_001341825.1:p.Trp2582Cys
NM_001354897.2:c.7722G>C	NP_001341826.1:p.Trp2574Cys
NM_001354898.2:c.7617G>C	NP_001341827.1:p.Trp2539Cys
NM_001354899.2:c.7608G>C	NP_001341828.1:p.Trp2536Cys
NM_001354900.2:c.7569G>C	NP_001341829.1:p.Trp2523Cys
NM_001354901.2:c.7515G>C	NP_001341830.1:p.Trp2505Cys
NM_001354902.2:c.7419G>C	NP_001341831.1:p.Trp2473Cys
NM_001354903.2:c.7389G>C	NP_001341832.1:p.Trp2463Cys
NM_001354904.2:c.7314G>C	NP_001341833.1:p.Trp2438Cys
NM_001354905.2:c.7212G>C	NP_001341834.1:p.Trp2404Cys
NM_001354906.2:c.6843G>C	NP_001341835.1:p.Trp2281Cys