Canonical Allele Identifier: CA16034192

Gene: APC

Linked Data

• ClinVar Variation Id: 1443359
• ClinVar RCV Id: RCV003772917
• dbSNP Id: rs538199237
• MyVariant Identifiers: chr5:g.112177169C>A (hg19) ; chr5:g.112841472C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841472C>A , CM000667.2:g.112841472C>A	GRCh38
NC_000005.9:g.112177169C>A , CM000667.1:g.112177169C>A	GRCh37
NC_000005.8:g.112205068C>A	NCBI36
NG_008481.4:g.153952C>A , LRG_130:g.153952C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5932C>A	ENSP00000473355.2:p.Pro1978Thr
ENST00000505350.2:c.*5884C>A	ENSP00000481752.1:n.*5884C>A
ENST00000507379.6:c.5824C>A	ENSP00000423224.2:p.Pro1942Thr
ENST00000509732.6:c.5878C>A	ENSP00000426541.2:p.Pro1960Thr
ENST00000512211.7:c.5878C>A	ENSP00000423828.3:p.Pro1960Thr
ENST00000257430.9:c.5878C>A MANE Select	ENSP00000257430.4:p.Pro1960Thr
ENST00000257430.8:c.5878C>A	ENSP00000257430.4:p.Pro1960Thr
ENST00000508376.6:c.5878C>A	ENSP00000427089.2:p.Pro1960Thr
ENST00000508624.5:c.*5200C>A	ENSP00000424265.1:n.*5200C>A
ENST00000520401.1:c.230+12500C>A
NM_000038.5:c.5878C>A	NP_000029.2:p.Pro1960Thr
NM_001127510.2:c.5878C>A	NP_001120982.1:p.Pro1960Thr
NM_001127511.2:c.5824C>A	NP_001120983.2:p.Pro1942Thr
NM_001354895.1:c.5878C>A	NP_001341824.1:p.Pro1960Thr
NM_001354896.1:c.5932C>A	NP_001341825.1:p.Pro1978Thr
NM_001354897.1:c.5908C>A	NP_001341826.1:p.Pro1970Thr
NM_001354898.1:c.5803C>A	NP_001341827.1:p.Pro1935Thr
NM_001354899.1:c.5794C>A	NP_001341828.1:p.Pro1932Thr
NM_001354900.1:c.5755C>A	NP_001341829.1:p.Pro1919Thr
NM_001354901.1:c.5701C>A	NP_001341830.1:p.Pro1901Thr
NM_001354902.1:c.5605C>A	NP_001341831.1:p.Pro1869Thr
NM_001354903.1:c.5575C>A	NP_001341832.1:p.Pro1859Thr
NM_001354904.1:c.5500C>A	NP_001341833.1:p.Pro1834Thr
NM_001354905.1:c.5398C>A	NP_001341834.1:p.Pro1800Thr
NM_001354906.1:c.5029C>A	NP_001341835.1:p.Pro1677Thr
NM_000038.6:c.5878C>A MANE Select	NP_000029.2:p.Pro1960Thr
NM_001127510.3:c.5878C>A	NP_001120982.1:p.Pro1960Thr
NM_001127511.3:c.5824C>A	NP_001120983.2:p.Pro1942Thr
NM_001354895.2:c.5878C>A	NP_001341824.1:p.Pro1960Thr
NM_001354896.2:c.5932C>A	NP_001341825.1:p.Pro1978Thr
NM_001354897.2:c.5908C>A	NP_001341826.1:p.Pro1970Thr
NM_001354898.2:c.5803C>A	NP_001341827.1:p.Pro1935Thr
NM_001354899.2:c.5794C>A	NP_001341828.1:p.Pro1932Thr
NM_001354900.2:c.5755C>A	NP_001341829.1:p.Pro1919Thr
NM_001354901.2:c.5701C>A	NP_001341830.1:p.Pro1901Thr
NM_001354902.2:c.5605C>A	NP_001341831.1:p.Pro1869Thr
NM_001354903.2:c.5575C>A	NP_001341832.1:p.Pro1859Thr
NM_001354904.2:c.5500C>A	NP_001341833.1:p.Pro1834Thr
NM_001354905.2:c.5398C>A	NP_001341834.1:p.Pro1800Thr
NM_001354906.2:c.5029C>A	NP_001341835.1:p.Pro1677Thr