Canonical Allele Identifier: CA16028993

Gene: APC

Linked Data

• ClinVar Variation Id: 485090
• ClinVar RCV Id: RCV000568313 ; RCV002491132 ; RCV002528949
• dbSNP Id: rs1554085052
• gnomAD v4: 5-112839084-A-G
• MyVariant Identifiers: chr5:g.112174781A>G (hg19) ; chr5:g.112839084A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839084A>G , CM000667.2:g.112839084A>G	GRCh38
NC_000005.9:g.112174781A>G , CM000667.1:g.112174781A>G	GRCh37
NC_000005.8:g.112202680A>G	NCBI36
NG_008481.4:g.151564A>G , LRG_130:g.151564A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3155A>G	ENSP00000484935.2:n.3155A>G
ENST00000504915.3:c.3544A>G	ENSP00000473355.2:p.Ile1182Val
ENST00000505350.2:c.*3496A>G	ENSP00000481752.1:n.*3496A>G
ENST00000507379.6:c.3436A>G	ENSP00000423224.2:p.Ile1146Val
ENST00000509732.6:c.3490A>G	ENSP00000426541.2:p.Ile1164Val
ENST00000512211.7:c.3490A>G	ENSP00000423828.3:p.Ile1164Val
ENST00000257430.9:c.3490A>G MANE Select	ENSP00000257430.4:p.Ile1164Val
ENST00000257430.8:c.3490A>G	ENSP00000257430.4:p.Ile1164Val
ENST00000502371.2:c.1843A>G
ENST00000508376.6:c.3490A>G	ENSP00000427089.2:p.Ile1164Val
ENST00000508624.5:c.*2812A>G	ENSP00000424265.1:n.*2812A>G
ENST00000512211.6:c.3490A>G	ENSP00000423828.2:p.Ile1164Val
ENST00000520401.1:c.230+10112A>G
NM_000038.5:c.3490A>G	NP_000029.2:p.Ile1164Val
NM_001127510.2:c.3490A>G	NP_001120982.1:p.Ile1164Val
NM_001127511.2:c.3436A>G	NP_001120983.2:p.Ile1146Val
NM_001354895.1:c.3490A>G	NP_001341824.1:p.Ile1164Val
NM_001354896.1:c.3544A>G	NP_001341825.1:p.Ile1182Val
NM_001354897.1:c.3520A>G	NP_001341826.1:p.Ile1174Val
NM_001354898.1:c.3415A>G	NP_001341827.1:p.Ile1139Val
NM_001354899.1:c.3406A>G	NP_001341828.1:p.Ile1136Val
NM_001354900.1:c.3367A>G	NP_001341829.1:p.Ile1123Val
NM_001354901.1:c.3313A>G	NP_001341830.1:p.Ile1105Val
NM_001354902.1:c.3217A>G	NP_001341831.1:p.Ile1073Val
NM_001354903.1:c.3187A>G	NP_001341832.1:p.Ile1063Val
NM_001354904.1:c.3112A>G	NP_001341833.1:p.Ile1038Val
NM_001354905.1:c.3010A>G	NP_001341834.1:p.Ile1004Val
NM_001354906.1:c.2641A>G	NP_001341835.1:p.Ile881Val
NM_000038.6:c.3490A>G MANE Select	NP_000029.2:p.Ile1164Val
NM_001127510.3:c.3490A>G	NP_001120982.1:p.Ile1164Val
NM_001127511.3:c.3436A>G	NP_001120983.2:p.Ile1146Val
NM_001354895.2:c.3490A>G	NP_001341824.1:p.Ile1164Val
NM_001354896.2:c.3544A>G	NP_001341825.1:p.Ile1182Val
NM_001354897.2:c.3520A>G	NP_001341826.1:p.Ile1174Val
NM_001354898.2:c.3415A>G	NP_001341827.1:p.Ile1139Val
NM_001354899.2:c.3406A>G	NP_001341828.1:p.Ile1136Val
NM_001354900.2:c.3367A>G	NP_001341829.1:p.Ile1123Val
NM_001354901.2:c.3313A>G	NP_001341830.1:p.Ile1105Val
NM_001354902.2:c.3217A>G	NP_001341831.1:p.Ile1073Val
NM_001354903.2:c.3187A>G	NP_001341832.1:p.Ile1063Val
NM_001354904.2:c.3112A>G	NP_001341833.1:p.Ile1038Val
NM_001354905.2:c.3010A>G	NP_001341834.1:p.Ile1004Val
NM_001354906.2:c.2641A>G	NP_001341835.1:p.Ile881Val