Canonical Allele Identifier: CA009948

Gene: APC

Linked Data

• ClinVar Variation Id: 185312
• ClinVar RCV Id: RCV002228728
• dbSNP Id: rs786202076
• gnomAD v2: 5-112176527-A-G
• gnomAD v3: 5-112840830-A-G
• gnomAD v4: 5-112840830-A-G
• MyVariant Identifiers: chr5:g.112176527A>G (hg19) ; chr5:g.112840830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840830A>G , CM000667.2:g.112840830A>G	GRCh38
NC_000005.9:g.112176527A>G , CM000667.1:g.112176527A>G	GRCh37
NC_000005.8:g.112204426A>G	NCBI36
NG_008481.4:g.153310A>G , LRG_130:g.153310A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5290A>G	ENSP00000473355.2:p.Ile1764Val
ENST00000505350.2:c.*5242A>G	ENSP00000481752.1:n.*5242A>G
ENST00000507379.6:c.5182A>G	ENSP00000423224.2:p.Ile1728Val
ENST00000509732.6:c.5236A>G	ENSP00000426541.2:p.Ile1746Val
ENST00000512211.7:c.5236A>G	ENSP00000423828.3:p.Ile1746Val
ENST00000257430.9:c.5236A>G MANE Select	ENSP00000257430.4:p.Ile1746Val
ENST00000257430.8:c.5236A>G	ENSP00000257430.4:p.Ile1746Val
ENST00000508376.6:c.5236A>G	ENSP00000427089.2:p.Ile1746Val
ENST00000508624.5:c.*4558A>G	ENSP00000424265.1:n.*4558A>G
ENST00000520401.1:c.230+11858A>G
NM_000038.5:c.5236A>G	NP_000029.2:p.Ile1746Val
NM_001127510.2:c.5236A>G	NP_001120982.1:p.Ile1746Val
NM_001127511.2:c.5182A>G	NP_001120983.2:p.Ile1728Val
NM_001354895.1:c.5236A>G	NP_001341824.1:p.Ile1746Val
NM_001354896.1:c.5290A>G	NP_001341825.1:p.Ile1764Val
NM_001354897.1:c.5266A>G	NP_001341826.1:p.Ile1756Val
NM_001354898.1:c.5161A>G	NP_001341827.1:p.Ile1721Val
NM_001354899.1:c.5152A>G	NP_001341828.1:p.Ile1718Val
NM_001354900.1:c.5113A>G	NP_001341829.1:p.Ile1705Val
NM_001354901.1:c.5059A>G	NP_001341830.1:p.Ile1687Val
NM_001354902.1:c.4963A>G	NP_001341831.1:p.Ile1655Val
NM_001354903.1:c.4933A>G	NP_001341832.1:p.Ile1645Val
NM_001354904.1:c.4858A>G	NP_001341833.1:p.Ile1620Val
NM_001354905.1:c.4756A>G	NP_001341834.1:p.Ile1586Val
NM_001354906.1:c.4387A>G	NP_001341835.1:p.Ile1463Val
NM_000038.6:c.5236A>G MANE Select	NP_000029.2:p.Ile1746Val
NM_001127510.3:c.5236A>G	NP_001120982.1:p.Ile1746Val
NM_001127511.3:c.5182A>G	NP_001120983.2:p.Ile1728Val
NM_001354895.2:c.5236A>G	NP_001341824.1:p.Ile1746Val
NM_001354896.2:c.5290A>G	NP_001341825.1:p.Ile1764Val
NM_001354897.2:c.5266A>G	NP_001341826.1:p.Ile1756Val
NM_001354898.2:c.5161A>G	NP_001341827.1:p.Ile1721Val
NM_001354899.2:c.5152A>G	NP_001341828.1:p.Ile1718Val
NM_001354900.2:c.5113A>G	NP_001341829.1:p.Ile1705Val
NM_001354901.2:c.5059A>G	NP_001341830.1:p.Ile1687Val
NM_001354902.2:c.4963A>G	NP_001341831.1:p.Ile1655Val
NM_001354903.2:c.4933A>G	NP_001341832.1:p.Ile1645Val
NM_001354904.2:c.4858A>G	NP_001341833.1:p.Ile1620Val
NM_001354905.2:c.4756A>G	NP_001341834.1:p.Ile1586Val
NM_001354906.2:c.4387A>G	NP_001341835.1:p.Ile1463Val