Canonical Allele Identifier: CA10578397

Gene: APC

Linked Data

• ClinVar Variation Id: 232982
• ClinVar RCV Id: RCV000221896 ; RCV003535576
• dbSNP Id: rs876660114
• gnomAD v4: 5-112840756-G-A
• MyVariant Identifiers: chr5:g.112176453G>A (hg19) ; chr5:g.112840756G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840756G>A , CM000667.2:g.112840756G>A	GRCh38
NC_000005.9:g.112176453G>A , CM000667.1:g.112176453G>A	GRCh37
NC_000005.8:g.112204352G>A	NCBI36
NG_008481.4:g.153236G>A , LRG_130:g.153236G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5216G>A	ENSP00000473355.2:p.Gly1739Asp
ENST00000505350.2:c.*5168G>A	ENSP00000481752.1:n.*5168G>A
ENST00000507379.6:c.5108G>A	ENSP00000423224.2:p.Gly1703Asp
ENST00000509732.6:c.5162G>A	ENSP00000426541.2:p.Gly1721Asp
ENST00000512211.7:c.5162G>A	ENSP00000423828.3:p.Gly1721Asp
ENST00000257430.9:c.5162G>A MANE Select	ENSP00000257430.4:p.Gly1721Asp
ENST00000257430.8:c.5162G>A	ENSP00000257430.4:p.Gly1721Asp
ENST00000508376.6:c.5162G>A	ENSP00000427089.2:p.Gly1721Asp
ENST00000508624.5:c.*4484G>A	ENSP00000424265.1:n.*4484G>A
ENST00000520401.1:c.230+11784G>A
NM_000038.5:c.5162G>A	NP_000029.2:p.Gly1721Asp
NM_001127510.2:c.5162G>A	NP_001120982.1:p.Gly1721Asp
NM_001127511.2:c.5108G>A	NP_001120983.2:p.Gly1703Asp
NM_001354895.1:c.5162G>A	NP_001341824.1:p.Gly1721Asp
NM_001354896.1:c.5216G>A	NP_001341825.1:p.Gly1739Asp
NM_001354897.1:c.5192G>A	NP_001341826.1:p.Gly1731Asp
NM_001354898.1:c.5087G>A	NP_001341827.1:p.Gly1696Asp
NM_001354899.1:c.5078G>A	NP_001341828.1:p.Gly1693Asp
NM_001354900.1:c.5039G>A	NP_001341829.1:p.Gly1680Asp
NM_001354901.1:c.4985G>A	NP_001341830.1:p.Gly1662Asp
NM_001354902.1:c.4889G>A	NP_001341831.1:p.Gly1630Asp
NM_001354903.1:c.4859G>A	NP_001341832.1:p.Gly1620Asp
NM_001354904.1:c.4784G>A	NP_001341833.1:p.Gly1595Asp
NM_001354905.1:c.4682G>A	NP_001341834.1:p.Gly1561Asp
NM_001354906.1:c.4313G>A	NP_001341835.1:p.Gly1438Asp
NM_000038.6:c.5162G>A MANE Select	NP_000029.2:p.Gly1721Asp
NM_001127510.3:c.5162G>A	NP_001120982.1:p.Gly1721Asp
NM_001127511.3:c.5108G>A	NP_001120983.2:p.Gly1703Asp
NM_001354895.2:c.5162G>A	NP_001341824.1:p.Gly1721Asp
NM_001354896.2:c.5216G>A	NP_001341825.1:p.Gly1739Asp
NM_001354897.2:c.5192G>A	NP_001341826.1:p.Gly1731Asp
NM_001354898.2:c.5087G>A	NP_001341827.1:p.Gly1696Asp
NM_001354899.2:c.5078G>A	NP_001341828.1:p.Gly1693Asp
NM_001354900.2:c.5039G>A	NP_001341829.1:p.Gly1680Asp
NM_001354901.2:c.4985G>A	NP_001341830.1:p.Gly1662Asp
NM_001354902.2:c.4889G>A	NP_001341831.1:p.Gly1630Asp
NM_001354903.2:c.4859G>A	NP_001341832.1:p.Gly1620Asp
NM_001354904.2:c.4784G>A	NP_001341833.1:p.Gly1595Asp
NM_001354905.2:c.4682G>A	NP_001341834.1:p.Gly1561Asp
NM_001354906.2:c.4313G>A	NP_001341835.1:p.Gly1438Asp