Canonical Allele Identifier: CA16025572

Gene: APC

Linked Data

• dbSNP Id: rs2149844401
• gnomAD v4: 5-112835155-G-A
• MyVariant Identifiers: chr5:g.112170852G>A (hg19) ; chr5:g.112835155G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835155G>A , CM000667.2:g.112835155G>A	GRCh38
NC_000005.9:g.112170852G>A , CM000667.1:g.112170852G>A	GRCh37
NC_000005.8:g.112198751G>A	NCBI36
NG_008481.4:g.147635G>A , LRG_130:g.147635G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1613G>A	ENSP00000484935.2:n.1613G>A
ENST00000504915.3:c.2002G>A	ENSP00000473355.2:p.Glu668Lys
ENST00000505350.2:c.*1954G>A	ENSP00000481752.1:n.*1954G>A
ENST00000507379.6:c.1894G>A	ENSP00000423224.2:p.Glu632Lys
ENST00000509732.6:c.1948G>A	ENSP00000426541.2:p.Glu650Lys
ENST00000512211.7:c.1948G>A	ENSP00000423828.3:p.Glu650Lys
ENST00000257430.9:c.1948G>A MANE Select	ENSP00000257430.4:p.Glu650Lys
ENST00000257430.8:c.1948G>A	ENSP00000257430.4:p.Glu650Lys
ENST00000502371.2:c.301G>A
ENST00000504915.2:c.637G>A	ENSP00000473355.1:p.Glu213Lys
ENST00000507379.5:c.1894G>A	ENSP00000423224.1:p.Glu632Lys
ENST00000508376.6:c.1948G>A	ENSP00000427089.2:p.Glu650Lys
ENST00000508624.5:c.*1270G>A	ENSP00000424265.1:n.*1270G>A
ENST00000512211.6:c.1948G>A	ENSP00000423828.2:p.Glu650Lys
ENST00000520401.1:c.230+6183G>A
NM_000038.5:c.1948G>A	NP_000029.2:p.Glu650Lys
NM_001127510.2:c.1948G>A	NP_001120982.1:p.Glu650Lys
NM_001127511.2:c.1894G>A	NP_001120983.2:p.Glu632Lys
NM_001354895.1:c.1948G>A	NP_001341824.1:p.Glu650Lys
NM_001354896.1:c.2002G>A	NP_001341825.1:p.Glu668Lys
NM_001354897.1:c.1978G>A	NP_001341826.1:p.Glu660Lys
NM_001354898.1:c.1873G>A	NP_001341827.1:p.Glu625Lys
NM_001354899.1:c.1864G>A	NP_001341828.1:p.Glu622Lys
NM_001354900.1:c.1825G>A	NP_001341829.1:p.Glu609Lys
NM_001354901.1:c.1771G>A	NP_001341830.1:p.Glu591Lys
NM_001354902.1:c.1675G>A	NP_001341831.1:p.Glu559Lys
NM_001354903.1:c.1645G>A	NP_001341832.1:p.Glu549Lys
NM_001354904.1:c.1570G>A	NP_001341833.1:p.Glu524Lys
NM_001354905.1:c.1468G>A	NP_001341834.1:p.Glu490Lys
NM_001354906.1:c.1099G>A	NP_001341835.1:p.Glu367Lys
NM_000038.6:c.1948G>A MANE Select	NP_000029.2:p.Glu650Lys
NM_001127510.3:c.1948G>A	NP_001120982.1:p.Glu650Lys
NM_001127511.3:c.1894G>A	NP_001120983.2:p.Glu632Lys
NM_001354895.2:c.1948G>A	NP_001341824.1:p.Glu650Lys
NM_001354896.2:c.2002G>A	NP_001341825.1:p.Glu668Lys
NM_001354897.2:c.1978G>A	NP_001341826.1:p.Glu660Lys
NM_001354898.2:c.1873G>A	NP_001341827.1:p.Glu625Lys
NM_001354899.2:c.1864G>A	NP_001341828.1:p.Glu622Lys
NM_001354900.2:c.1825G>A	NP_001341829.1:p.Glu609Lys
NM_001354901.2:c.1771G>A	NP_001341830.1:p.Glu591Lys
NM_001354902.2:c.1675G>A	NP_001341831.1:p.Glu559Lys
NM_001354903.2:c.1645G>A	NP_001341832.1:p.Glu549Lys
NM_001354904.2:c.1570G>A	NP_001341833.1:p.Glu524Lys
NM_001354905.2:c.1468G>A	NP_001341834.1:p.Glu490Lys
NM_001354906.2:c.1099G>A	NP_001341835.1:p.Glu367Lys