Canonical Allele Identifier: CA10582308

Gene: APC

Linked Data

• ClinVar Variation Id: 236591
• ClinVar RCV Id: RCV000562770 ; RCV003535609
• dbSNP Id: rs878853439
• gnomAD v2: 5-112174698-A-C
• gnomAD v4: 5-112839001-A-C
• MyVariant Identifiers: chr5:g.112174698A>C (hg19) ; chr5:g.112839001A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839001A>C , CM000667.2:g.112839001A>C	GRCh38
NC_000005.9:g.112174698A>C , CM000667.1:g.112174698A>C	GRCh37
NC_000005.8:g.112202597A>C	NCBI36
NG_008481.4:g.151481A>C , LRG_130:g.151481A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3072A>C	ENSP00000484935.2:n.3072A>C
ENST00000504915.3:c.3461A>C	ENSP00000473355.2:p.Glu1154Ala
ENST00000505350.2:c.*3413A>C	ENSP00000481752.1:n.*3413A>C
ENST00000507379.6:c.3353A>C	ENSP00000423224.2:p.Glu1118Ala
ENST00000509732.6:c.3407A>C	ENSP00000426541.2:p.Glu1136Ala
ENST00000512211.7:c.3407A>C	ENSP00000423828.3:p.Glu1136Ala
ENST00000257430.9:c.3407A>C MANE Select	ENSP00000257430.4:p.Glu1136Ala
ENST00000257430.8:c.3407A>C	ENSP00000257430.4:p.Glu1136Ala
ENST00000502371.2:c.1760A>C
ENST00000507379.5:c.3353A>C	ENSP00000423224.1:p.Glu1118Ala
ENST00000508376.6:c.3407A>C	ENSP00000427089.2:p.Glu1136Ala
ENST00000508624.5:c.*2729A>C	ENSP00000424265.1:n.*2729A>C
ENST00000512211.6:c.3407A>C	ENSP00000423828.2:p.Glu1136Ala
ENST00000520401.1:c.230+10029A>C
NM_000038.5:c.3407A>C	NP_000029.2:p.Glu1136Ala
NM_001127510.2:c.3407A>C	NP_001120982.1:p.Glu1136Ala
NM_001127511.2:c.3353A>C	NP_001120983.2:p.Glu1118Ala
NM_001354895.1:c.3407A>C	NP_001341824.1:p.Glu1136Ala
NM_001354896.1:c.3461A>C	NP_001341825.1:p.Glu1154Ala
NM_001354897.1:c.3437A>C	NP_001341826.1:p.Glu1146Ala
NM_001354898.1:c.3332A>C	NP_001341827.1:p.Glu1111Ala
NM_001354899.1:c.3323A>C	NP_001341828.1:p.Glu1108Ala
NM_001354900.1:c.3284A>C	NP_001341829.1:p.Glu1095Ala
NM_001354901.1:c.3230A>C	NP_001341830.1:p.Glu1077Ala
NM_001354902.1:c.3134A>C	NP_001341831.1:p.Glu1045Ala
NM_001354903.1:c.3104A>C	NP_001341832.1:p.Glu1035Ala
NM_001354904.1:c.3029A>C	NP_001341833.1:p.Glu1010Ala
NM_001354905.1:c.2927A>C	NP_001341834.1:p.Glu976Ala
NM_001354906.1:c.2558A>C	NP_001341835.1:p.Glu853Ala
NM_000038.6:c.3407A>C MANE Select	NP_000029.2:p.Glu1136Ala
NM_001127510.3:c.3407A>C	NP_001120982.1:p.Glu1136Ala
NM_001127511.3:c.3353A>C	NP_001120983.2:p.Glu1118Ala
NM_001354895.2:c.3407A>C	NP_001341824.1:p.Glu1136Ala
NM_001354896.2:c.3461A>C	NP_001341825.1:p.Glu1154Ala
NM_001354897.2:c.3437A>C	NP_001341826.1:p.Glu1146Ala
NM_001354898.2:c.3332A>C	NP_001341827.1:p.Glu1111Ala
NM_001354899.2:c.3323A>C	NP_001341828.1:p.Glu1108Ala
NM_001354900.2:c.3284A>C	NP_001341829.1:p.Glu1095Ala
NM_001354901.2:c.3230A>C	NP_001341830.1:p.Glu1077Ala
NM_001354902.2:c.3134A>C	NP_001341831.1:p.Glu1045Ala
NM_001354903.2:c.3104A>C	NP_001341832.1:p.Glu1035Ala
NM_001354904.2:c.3029A>C	NP_001341833.1:p.Glu1010Ala
NM_001354905.2:c.2927A>C	NP_001341834.1:p.Glu976Ala
NM_001354906.2:c.2558A>C	NP_001341835.1:p.Glu853Ala