Canonical Allele Identifier: CA16028032

Gene: APC

Linked Data

• ClinVar Variation Id: 1039704
• ClinVar RCV Id: RCV002447408 ; RCV003770934 ; RCV004005184
• dbSNP Id: rs1765326937
• gnomAD v4: 5-112838653-A-C
• MyVariant Identifiers: chr5:g.112174350A>C (hg19) ; chr5:g.112838653A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838653A>C , CM000667.2:g.112838653A>C	GRCh38
NC_000005.9:g.112174350A>C , CM000667.1:g.112174350A>C	GRCh37
NC_000005.8:g.112202249A>C	NCBI36
NG_008481.4:g.151133A>C , LRG_130:g.151133A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2724A>C	ENSP00000484935.2:n.2724A>C
ENST00000504915.3:c.3113A>C	ENSP00000473355.2:p.Glu1038Ala
ENST00000505350.2:c.*3065A>C	ENSP00000481752.1:n.*3065A>C
ENST00000507379.6:c.3005A>C	ENSP00000423224.2:p.Glu1002Ala
ENST00000509732.6:c.3059A>C	ENSP00000426541.2:p.Glu1020Ala
ENST00000512211.7:c.3059A>C	ENSP00000423828.3:p.Glu1020Ala
ENST00000257430.9:c.3059A>C MANE Select	ENSP00000257430.4:p.Glu1020Ala
ENST00000257430.8:c.3059A>C	ENSP00000257430.4:p.Glu1020Ala
ENST00000502371.2:c.1412A>C
ENST00000507379.5:c.3005A>C	ENSP00000423224.1:p.Glu1002Ala
ENST00000508376.6:c.3059A>C	ENSP00000427089.2:p.Glu1020Ala
ENST00000508624.5:c.*2381A>C	ENSP00000424265.1:n.*2381A>C
ENST00000512211.6:c.3059A>C	ENSP00000423828.2:p.Glu1020Ala
ENST00000520401.1:c.230+9681A>C
NM_000038.5:c.3059A>C	NP_000029.2:p.Glu1020Ala
NM_001127510.2:c.3059A>C	NP_001120982.1:p.Glu1020Ala
NM_001127511.2:c.3005A>C	NP_001120983.2:p.Glu1002Ala
NM_001354895.1:c.3059A>C	NP_001341824.1:p.Glu1020Ala
NM_001354896.1:c.3113A>C	NP_001341825.1:p.Glu1038Ala
NM_001354897.1:c.3089A>C	NP_001341826.1:p.Glu1030Ala
NM_001354898.1:c.2984A>C	NP_001341827.1:p.Glu995Ala
NM_001354899.1:c.2975A>C	NP_001341828.1:p.Glu992Ala
NM_001354900.1:c.2936A>C	NP_001341829.1:p.Glu979Ala
NM_001354901.1:c.2882A>C	NP_001341830.1:p.Glu961Ala
NM_001354902.1:c.2786A>C	NP_001341831.1:p.Glu929Ala
NM_001354903.1:c.2756A>C	NP_001341832.1:p.Glu919Ala
NM_001354904.1:c.2681A>C	NP_001341833.1:p.Glu894Ala
NM_001354905.1:c.2579A>C	NP_001341834.1:p.Glu860Ala
NM_001354906.1:c.2210A>C	NP_001341835.1:p.Glu737Ala
NM_000038.6:c.3059A>C MANE Select	NP_000029.2:p.Glu1020Ala
NM_001127510.3:c.3059A>C	NP_001120982.1:p.Glu1020Ala
NM_001127511.3:c.3005A>C	NP_001120983.2:p.Glu1002Ala
NM_001354895.2:c.3059A>C	NP_001341824.1:p.Glu1020Ala
NM_001354896.2:c.3113A>C	NP_001341825.1:p.Glu1038Ala
NM_001354897.2:c.3089A>C	NP_001341826.1:p.Glu1030Ala
NM_001354898.2:c.2984A>C	NP_001341827.1:p.Glu995Ala
NM_001354899.2:c.2975A>C	NP_001341828.1:p.Glu992Ala
NM_001354900.2:c.2936A>C	NP_001341829.1:p.Glu979Ala
NM_001354901.2:c.2882A>C	NP_001341830.1:p.Glu961Ala
NM_001354902.2:c.2786A>C	NP_001341831.1:p.Glu929Ala
NM_001354903.2:c.2756A>C	NP_001341832.1:p.Glu919Ala
NM_001354904.2:c.2681A>C	NP_001341833.1:p.Glu894Ala
NM_001354905.2:c.2579A>C	NP_001341834.1:p.Glu860Ala
NM_001354906.2:c.2210A>C	NP_001341835.1:p.Glu737Ala