Canonical Allele Identifier: CA008747

Gene: APC

Linked Data

• ClinVar Variation Id: 184023
• ClinVar RCV Id: RCV000163132 ; RCV000409994 ; RCV000607365
• dbSNP Id: rs746289994
• ExAC: 5:112175200 A / G
• gnomAD v2: 5-112175200-A-G
• gnomAD v4: 5-112839503-A-G
• MyVariant Identifiers: chr5:g.112175200A>G (hg19) ; chr5:g.112839503A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839503A>G , CM000667.2:g.112839503A>G	GRCh38
NC_000005.9:g.112175200A>G , CM000667.1:g.112175200A>G	GRCh37
NC_000005.8:g.112203099A>G	NCBI36
NG_008481.4:g.151983A>G , LRG_130:g.151983A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3574A>G	ENSP00000484935.2:n.3574A>G
ENST00000504915.3:c.3963A>G	ENSP00000473355.2:p.Gln1321=
ENST00000505350.2:c.*3915A>G	ENSP00000481752.1:n.*3915A>G
ENST00000507379.6:c.3855A>G	ENSP00000423224.2:p.Gln1285=
ENST00000509732.6:c.3909A>G	ENSP00000426541.2:p.Gln1303=
ENST00000512211.7:c.3909A>G	ENSP00000423828.3:p.Gln1303=
ENST00000257430.9:c.3909A>G MANE Select	ENSP00000257430.4:p.Gln1303=
ENST00000257430.8:c.3909A>G	ENSP00000257430.4:p.Gln1303=
ENST00000502371.2:c.2262A>G
ENST00000508376.6:c.3909A>G	ENSP00000427089.2:p.Gln1303=
ENST00000508624.5:c.*3231A>G	ENSP00000424265.1:n.*3231A>G
ENST00000512211.6:c.3909A>G	ENSP00000423828.2:p.Gln1303=
ENST00000520401.1:c.230+10531A>G
NM_000038.5:c.3909A>G	NP_000029.2:p.Gln1303=
NM_001127510.2:c.3909A>G	NP_001120982.1:p.Gln1303=
NM_001127511.2:c.3855A>G	NP_001120983.2:p.Gln1285=
NM_001354895.1:c.3909A>G	NP_001341824.1:p.Gln1303=
NM_001354896.1:c.3963A>G	NP_001341825.1:p.Gln1321=
NM_001354897.1:c.3939A>G	NP_001341826.1:p.Gln1313=
NM_001354898.1:c.3834A>G	NP_001341827.1:p.Gln1278=
NM_001354899.1:c.3825A>G	NP_001341828.1:p.Gln1275=
NM_001354900.1:c.3786A>G	NP_001341829.1:p.Gln1262=
NM_001354901.1:c.3732A>G	NP_001341830.1:p.Gln1244=
NM_001354902.1:c.3636A>G	NP_001341831.1:p.Gln1212=
NM_001354903.1:c.3606A>G	NP_001341832.1:p.Gln1202=
NM_001354904.1:c.3531A>G	NP_001341833.1:p.Gln1177=
NM_001354905.1:c.3429A>G	NP_001341834.1:p.Gln1143=
NM_001354906.1:c.3060A>G	NP_001341835.1:p.Gln1020=
NM_000038.6:c.3909A>G MANE Select	NP_000029.2:p.Gln1303=
NM_001127510.3:c.3909A>G	NP_001120982.1:p.Gln1303=
NM_001127511.3:c.3855A>G	NP_001120983.2:p.Gln1285=
NM_001354895.2:c.3909A>G	NP_001341824.1:p.Gln1303=
NM_001354896.2:c.3963A>G	NP_001341825.1:p.Gln1321=
NM_001354897.2:c.3939A>G	NP_001341826.1:p.Gln1313=
NM_001354898.2:c.3834A>G	NP_001341827.1:p.Gln1278=
NM_001354899.2:c.3825A>G	NP_001341828.1:p.Gln1275=
NM_001354900.2:c.3786A>G	NP_001341829.1:p.Gln1262=
NM_001354901.2:c.3732A>G	NP_001341830.1:p.Gln1244=
NM_001354902.2:c.3636A>G	NP_001341831.1:p.Gln1212=
NM_001354903.2:c.3606A>G	NP_001341832.1:p.Gln1202=
NM_001354904.2:c.3531A>G	NP_001341833.1:p.Gln1177=
NM_001354905.2:c.3429A>G	NP_001341834.1:p.Gln1143=
NM_001354906.2:c.3060A>G	NP_001341835.1:p.Gln1020=