Canonical Allele Identifier: CA16034228

Gene: APC

Linked Data

• ClinVar Variation Id: 470024
• ClinVar RCV Id: RCV000776164 ; RCV002268157 ; RCV001155577 ; RCV003419972 ; RCV003651975 ; RCV003999407
• dbSNP Id: rs773776516
• gnomAD v4: 5-112841488-A-G
• MyVariant Identifiers: chr5:g.112177185A>G (hg19) ; chr5:g.112841488A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841488A>G , CM000667.2:g.112841488A>G	GRCh38
NC_000005.9:g.112177185A>G , CM000667.1:g.112177185A>G	GRCh37
NC_000005.8:g.112205084A>G	NCBI36
NG_008481.4:g.153968A>G , LRG_130:g.153968A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5948A>G	ENSP00000473355.2:p.His1983Arg
ENST00000505350.2:c.*5900A>G	ENSP00000481752.1:n.*5900A>G
ENST00000507379.6:c.5840A>G	ENSP00000423224.2:p.His1947Arg
ENST00000509732.6:c.5894A>G	ENSP00000426541.2:p.His1965Arg
ENST00000512211.7:c.5894A>G	ENSP00000423828.3:p.His1965Arg
ENST00000257430.9:c.5894A>G MANE Select	ENSP00000257430.4:p.His1965Arg
ENST00000257430.8:c.5894A>G	ENSP00000257430.4:p.His1965Arg
ENST00000508376.6:c.5894A>G	ENSP00000427089.2:p.His1965Arg
ENST00000508624.5:c.*5216A>G	ENSP00000424265.1:n.*5216A>G
ENST00000520401.1:c.230+12516A>G
NM_000038.5:c.5894A>G	NP_000029.2:p.His1965Arg
NM_001127510.2:c.5894A>G	NP_001120982.1:p.His1965Arg
NM_001127511.2:c.5840A>G	NP_001120983.2:p.His1947Arg
NM_001354895.1:c.5894A>G	NP_001341824.1:p.His1965Arg
NM_001354896.1:c.5948A>G	NP_001341825.1:p.His1983Arg
NM_001354897.1:c.5924A>G	NP_001341826.1:p.His1975Arg
NM_001354898.1:c.5819A>G	NP_001341827.1:p.His1940Arg
NM_001354899.1:c.5810A>G	NP_001341828.1:p.His1937Arg
NM_001354900.1:c.5771A>G	NP_001341829.1:p.His1924Arg
NM_001354901.1:c.5717A>G	NP_001341830.1:p.His1906Arg
NM_001354902.1:c.5621A>G	NP_001341831.1:p.His1874Arg
NM_001354903.1:c.5591A>G	NP_001341832.1:p.His1864Arg
NM_001354904.1:c.5516A>G	NP_001341833.1:p.His1839Arg
NM_001354905.1:c.5414A>G	NP_001341834.1:p.His1805Arg
NM_001354906.1:c.5045A>G	NP_001341835.1:p.His1682Arg
NM_000038.6:c.5894A>G MANE Select	NP_000029.2:p.His1965Arg
NM_001127510.3:c.5894A>G	NP_001120982.1:p.His1965Arg
NM_001127511.3:c.5840A>G	NP_001120983.2:p.His1947Arg
NM_001354895.2:c.5894A>G	NP_001341824.1:p.His1965Arg
NM_001354896.2:c.5948A>G	NP_001341825.1:p.His1983Arg
NM_001354897.2:c.5924A>G	NP_001341826.1:p.His1975Arg
NM_001354898.2:c.5819A>G	NP_001341827.1:p.His1940Arg
NM_001354899.2:c.5810A>G	NP_001341828.1:p.His1937Arg
NM_001354900.2:c.5771A>G	NP_001341829.1:p.His1924Arg
NM_001354901.2:c.5717A>G	NP_001341830.1:p.His1906Arg
NM_001354902.2:c.5621A>G	NP_001341831.1:p.His1874Arg
NM_001354903.2:c.5591A>G	NP_001341832.1:p.His1864Arg
NM_001354904.2:c.5516A>G	NP_001341833.1:p.His1839Arg
NM_001354905.2:c.5414A>G	NP_001341834.1:p.His1805Arg
NM_001354906.2:c.5045A>G	NP_001341835.1:p.His1682Arg