Canonical Allele Identifier: CA446209560

Gene: APC

Linked Data

• ClinVar Variation Id: 3148044
• ClinVar RCV Id: RCV004439945
• dbSNP Id: rs2149931403
• gnomAD v4: 5-112840670-A-G
• MyVariant Identifiers: chr5:g.112176367A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840670A>G , CM000667.2:g.112840670A>G	GRCh38
NC_000005.9:g.112176367A>G , CM000667.1:g.112176367A>G	GRCh37
NC_000005.8:g.112204266A>G	NCBI36
NG_008481.4:g.153150A>G , LRG_130:g.153150A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5130A>G	ENSP00000473355.2:p.Thr1710=
ENST00000505350.2:c.*5082A>G	ENSP00000481752.1:n.*5082A>G
ENST00000507379.6:c.5022A>G	ENSP00000423224.2:p.Thr1674=
ENST00000509732.6:c.5076A>G	ENSP00000426541.2:p.Thr1692=
ENST00000512211.7:c.5076A>G	ENSP00000423828.3:p.Thr1692=
ENST00000257430.9:c.5076A>G MANE Select	ENSP00000257430.4:p.Thr1692=
ENST00000257430.8:c.5076A>G	ENSP00000257430.4:p.Thr1692=
ENST00000508376.6:c.5076A>G	ENSP00000427089.2:p.Thr1692=
ENST00000508624.5:c.*4398A>G	ENSP00000424265.1:n.*4398A>G
ENST00000520401.1:c.230+11698A>G
NM_000038.5:c.5076A>G	NP_000029.2:p.Thr1692=
NM_001127510.2:c.5076A>G	NP_001120982.1:p.Thr1692=
NM_001127511.2:c.5022A>G	NP_001120983.2:p.Thr1674=
NM_001354895.1:c.5076A>G	NP_001341824.1:p.Thr1692=
NM_001354896.1:c.5130A>G	NP_001341825.1:p.Thr1710=
NM_001354897.1:c.5106A>G	NP_001341826.1:p.Thr1702=
NM_001354898.1:c.5001A>G	NP_001341827.1:p.Thr1667=
NM_001354899.1:c.4992A>G	NP_001341828.1:p.Thr1664=
NM_001354900.1:c.4953A>G	NP_001341829.1:p.Thr1651=
NM_001354901.1:c.4899A>G	NP_001341830.1:p.Thr1633=
NM_001354902.1:c.4803A>G	NP_001341831.1:p.Thr1601=
NM_001354903.1:c.4773A>G	NP_001341832.1:p.Thr1591=
NM_001354904.1:c.4698A>G	NP_001341833.1:p.Thr1566=
NM_001354905.1:c.4596A>G	NP_001341834.1:p.Thr1532=
NM_001354906.1:c.4227A>G	NP_001341835.1:p.Thr1409=
NM_000038.6:c.5076A>G MANE Select	NP_000029.2:p.Thr1692=
NM_001127510.3:c.5076A>G	NP_001120982.1:p.Thr1692=
NM_001127511.3:c.5022A>G	NP_001120983.2:p.Thr1674=
NM_001354895.2:c.5076A>G	NP_001341824.1:p.Thr1692=
NM_001354896.2:c.5130A>G	NP_001341825.1:p.Thr1710=
NM_001354897.2:c.5106A>G	NP_001341826.1:p.Thr1702=
NM_001354898.2:c.5001A>G	NP_001341827.1:p.Thr1667=
NM_001354899.2:c.4992A>G	NP_001341828.1:p.Thr1664=
NM_001354900.2:c.4953A>G	NP_001341829.1:p.Thr1651=
NM_001354901.2:c.4899A>G	NP_001341830.1:p.Thr1633=
NM_001354902.2:c.4803A>G	NP_001341831.1:p.Thr1601=
NM_001354903.2:c.4773A>G	NP_001341832.1:p.Thr1591=
NM_001354904.2:c.4698A>G	NP_001341833.1:p.Thr1566=
NM_001354905.2:c.4596A>G	NP_001341834.1:p.Thr1532=
NM_001354906.2:c.4227A>G	NP_001341835.1:p.Thr1409=