Canonical Allele Identifier: CA16034182

Gene: APC

Linked Data

• ClinVar Variation Id: 940082
• ClinVar RCV Id: RCV003650686
• dbSNP Id: rs1060503306
• MyVariant Identifiers: chr5:g.112177164A>G (hg19) ; chr5:g.112841467A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841467A>G , CM000667.2:g.112841467A>G	GRCh38
NC_000005.9:g.112177164A>G , CM000667.1:g.112177164A>G	GRCh37
NC_000005.8:g.112205063A>G	NCBI36
NG_008481.4:g.153947A>G , LRG_130:g.153947A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.5927A>G	ENSP00000473355.2:p.Asn1976Ser
ENST00000505350.2:c.*5879A>G	ENSP00000481752.1:n.*5879A>G
ENST00000507379.6:c.5819A>G	ENSP00000423224.2:p.Asn1940Ser
ENST00000509732.6:c.5873A>G	ENSP00000426541.2:p.Asn1958Ser
ENST00000512211.7:c.5873A>G	ENSP00000423828.3:p.Asn1958Ser
ENST00000257430.9:c.5873A>G MANE Select	ENSP00000257430.4:p.Asn1958Ser
ENST00000257430.8:c.5873A>G	ENSP00000257430.4:p.Asn1958Ser
ENST00000508376.6:c.5873A>G	ENSP00000427089.2:p.Asn1958Ser
ENST00000508624.5:c.*5195A>G	ENSP00000424265.1:n.*5195A>G
ENST00000520401.1:c.230+12495A>G
NM_000038.5:c.5873A>G	NP_000029.2:p.Asn1958Ser
NM_001127510.2:c.5873A>G	NP_001120982.1:p.Asn1958Ser
NM_001127511.2:c.5819A>G	NP_001120983.2:p.Asn1940Ser
NM_001354895.1:c.5873A>G	NP_001341824.1:p.Asn1958Ser
NM_001354896.1:c.5927A>G	NP_001341825.1:p.Asn1976Ser
NM_001354897.1:c.5903A>G	NP_001341826.1:p.Asn1968Ser
NM_001354898.1:c.5798A>G	NP_001341827.1:p.Asn1933Ser
NM_001354899.1:c.5789A>G	NP_001341828.1:p.Asn1930Ser
NM_001354900.1:c.5750A>G	NP_001341829.1:p.Asn1917Ser
NM_001354901.1:c.5696A>G	NP_001341830.1:p.Asn1899Ser
NM_001354902.1:c.5600A>G	NP_001341831.1:p.Asn1867Ser
NM_001354903.1:c.5570A>G	NP_001341832.1:p.Asn1857Ser
NM_001354904.1:c.5495A>G	NP_001341833.1:p.Asn1832Ser
NM_001354905.1:c.5393A>G	NP_001341834.1:p.Asn1798Ser
NM_001354906.1:c.5024A>G	NP_001341835.1:p.Asn1675Ser
NM_000038.6:c.5873A>G MANE Select	NP_000029.2:p.Asn1958Ser
NM_001127510.3:c.5873A>G	NP_001120982.1:p.Asn1958Ser
NM_001127511.3:c.5819A>G	NP_001120983.2:p.Asn1940Ser
NM_001354895.2:c.5873A>G	NP_001341824.1:p.Asn1958Ser
NM_001354896.2:c.5927A>G	NP_001341825.1:p.Asn1976Ser
NM_001354897.2:c.5903A>G	NP_001341826.1:p.Asn1968Ser
NM_001354898.2:c.5798A>G	NP_001341827.1:p.Asn1933Ser
NM_001354899.2:c.5789A>G	NP_001341828.1:p.Asn1930Ser
NM_001354900.2:c.5750A>G	NP_001341829.1:p.Asn1917Ser
NM_001354901.2:c.5696A>G	NP_001341830.1:p.Asn1899Ser
NM_001354902.2:c.5600A>G	NP_001341831.1:p.Asn1867Ser
NM_001354903.2:c.5570A>G	NP_001341832.1:p.Asn1857Ser
NM_001354904.2:c.5495A>G	NP_001341833.1:p.Asn1832Ser
NM_001354905.2:c.5393A>G	NP_001341834.1:p.Asn1798Ser
NM_001354906.2:c.5024A>G	NP_001341835.1:p.Asn1675Ser