Canonical Allele Identifier: CA445963143

Gene: APC

Linked Data

• ClinVar Variation Id: 482286
• ClinVar RCV Id: RCV000569468 ; RCV002307549 ; RCV002528042 ; RCV004024484
• dbSNP Id: rs1554084657
• gnomAD v4: 5-112838639-T-C
• MyVariant Identifiers: chr5:g.112174336T>C (hg19) ; chr5:g.112838639T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838639T>C , CM000667.2:g.112838639T>C	GRCh38
NC_000005.9:g.112174336T>C , CM000667.1:g.112174336T>C	GRCh37
NC_000005.8:g.112202235T>C	NCBI36
NG_008481.4:g.151119T>C , LRG_130:g.151119T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2710T>C	ENSP00000484935.2:n.2710T>C
ENST00000504915.3:c.3099T>C	ENSP00000473355.2:p.Asp1033=
ENST00000505350.2:c.*3051T>C	ENSP00000481752.1:n.*3051T>C
ENST00000507379.6:c.2991T>C	ENSP00000423224.2:p.Asp997=
ENST00000509732.6:c.3045T>C	ENSP00000426541.2:p.Asp1015=
ENST00000512211.7:c.3045T>C	ENSP00000423828.3:p.Asp1015=
ENST00000257430.9:c.3045T>C MANE Select	ENSP00000257430.4:p.Asp1015=
ENST00000257430.8:c.3045T>C	ENSP00000257430.4:p.Asp1015=
ENST00000502371.2:c.1398T>C
ENST00000507379.5:c.2991T>C	ENSP00000423224.1:p.Asp997=
ENST00000508376.6:c.3045T>C	ENSP00000427089.2:p.Asp1015=
ENST00000508624.5:c.*2367T>C	ENSP00000424265.1:n.*2367T>C
ENST00000512211.6:c.3045T>C	ENSP00000423828.2:p.Asp1015=
ENST00000520401.1:c.230+9667T>C
NM_000038.5:c.3045T>C	NP_000029.2:p.Asp1015=
NM_001127510.2:c.3045T>C	NP_001120982.1:p.Asp1015=
NM_001127511.2:c.2991T>C	NP_001120983.2:p.Asp997=
NM_001354895.1:c.3045T>C	NP_001341824.1:p.Asp1015=
NM_001354896.1:c.3099T>C	NP_001341825.1:p.Asp1033=
NM_001354897.1:c.3075T>C	NP_001341826.1:p.Asp1025=
NM_001354898.1:c.2970T>C	NP_001341827.1:p.Asp990=
NM_001354899.1:c.2961T>C	NP_001341828.1:p.Asp987=
NM_001354900.1:c.2922T>C	NP_001341829.1:p.Asp974=
NM_001354901.1:c.2868T>C	NP_001341830.1:p.Asp956=
NM_001354902.1:c.2772T>C	NP_001341831.1:p.Asp924=
NM_001354903.1:c.2742T>C	NP_001341832.1:p.Asp914=
NM_001354904.1:c.2667T>C	NP_001341833.1:p.Asp889=
NM_001354905.1:c.2565T>C	NP_001341834.1:p.Asp855=
NM_001354906.1:c.2196T>C	NP_001341835.1:p.Asp732=
NM_000038.6:c.3045T>C MANE Select	NP_000029.2:p.Asp1015=
NM_001127510.3:c.3045T>C	NP_001120982.1:p.Asp1015=
NM_001127511.3:c.2991T>C	NP_001120983.2:p.Asp997=
NM_001354895.2:c.3045T>C	NP_001341824.1:p.Asp1015=
NM_001354896.2:c.3099T>C	NP_001341825.1:p.Asp1033=
NM_001354897.2:c.3075T>C	NP_001341826.1:p.Asp1025=
NM_001354898.2:c.2970T>C	NP_001341827.1:p.Asp990=
NM_001354899.2:c.2961T>C	NP_001341828.1:p.Asp987=
NM_001354900.2:c.2922T>C	NP_001341829.1:p.Asp974=
NM_001354901.2:c.2868T>C	NP_001341830.1:p.Asp956=
NM_001354902.2:c.2772T>C	NP_001341831.1:p.Asp924=
NM_001354903.2:c.2742T>C	NP_001341832.1:p.Asp914=
NM_001354904.2:c.2667T>C	NP_001341833.1:p.Asp889=
NM_001354905.2:c.2565T>C	NP_001341834.1:p.Asp855=
NM_001354906.2:c.2196T>C	NP_001341835.1:p.Asp732=