Canonical Allele Identifier: CA16031702

Gene: APC

Linked Data

• dbSNP Id: rs1356068619
• MyVariant Identifiers: chr5:g.112176020G>A (hg19) ; chr5:g.112840323G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840323G>A , CM000667.2:g.112840323G>A	GRCh38
NC_000005.9:g.112176020G>A , CM000667.1:g.112176020G>A	GRCh37
NC_000005.8:g.112203919G>A	NCBI36
NG_008481.4:g.152803G>A , LRG_130:g.152803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.4783G>A	ENSP00000473355.2:p.Glu1595Lys
ENST00000505350.2:c.*4735G>A	ENSP00000481752.1:n.*4735G>A
ENST00000507379.6:c.4675G>A	ENSP00000423224.2:p.Glu1559Lys
ENST00000509732.6:c.4729G>A	ENSP00000426541.2:p.Glu1577Lys
ENST00000512211.7:c.4729G>A	ENSP00000423828.3:p.Glu1577Lys
ENST00000257430.9:c.4729G>A MANE Select	ENSP00000257430.4:p.Glu1577Lys
ENST00000257430.8:c.4729G>A	ENSP00000257430.4:p.Glu1577Lys
ENST00000508376.6:c.4729G>A	ENSP00000427089.2:p.Glu1577Lys
ENST00000508624.5:c.*4051G>A	ENSP00000424265.1:n.*4051G>A
ENST00000520401.1:c.230+11351G>A
NM_000038.5:c.4729G>A	NP_000029.2:p.Glu1577Lys
NM_001127510.2:c.4729G>A	NP_001120982.1:p.Glu1577Lys
NM_001127511.2:c.4675G>A	NP_001120983.2:p.Glu1559Lys
NM_001354895.1:c.4729G>A	NP_001341824.1:p.Glu1577Lys
NM_001354896.1:c.4783G>A	NP_001341825.1:p.Glu1595Lys
NM_001354897.1:c.4759G>A	NP_001341826.1:p.Glu1587Lys
NM_001354898.1:c.4654G>A	NP_001341827.1:p.Glu1552Lys
NM_001354899.1:c.4645G>A	NP_001341828.1:p.Glu1549Lys
NM_001354900.1:c.4606G>A	NP_001341829.1:p.Glu1536Lys
NM_001354901.1:c.4552G>A	NP_001341830.1:p.Glu1518Lys
NM_001354902.1:c.4456G>A	NP_001341831.1:p.Glu1486Lys
NM_001354903.1:c.4426G>A	NP_001341832.1:p.Glu1476Lys
NM_001354904.1:c.4351G>A	NP_001341833.1:p.Glu1451Lys
NM_001354905.1:c.4249G>A	NP_001341834.1:p.Glu1417Lys
NM_001354906.1:c.3880G>A	NP_001341835.1:p.Glu1294Lys
NM_000038.6:c.4729G>A MANE Select	NP_000029.2:p.Glu1577Lys
NM_001127510.3:c.4729G>A	NP_001120982.1:p.Glu1577Lys
NM_001127511.3:c.4675G>A	NP_001120983.2:p.Glu1559Lys
NM_001354895.2:c.4729G>A	NP_001341824.1:p.Glu1577Lys
NM_001354896.2:c.4783G>A	NP_001341825.1:p.Glu1595Lys
NM_001354897.2:c.4759G>A	NP_001341826.1:p.Glu1587Lys
NM_001354898.2:c.4654G>A	NP_001341827.1:p.Glu1552Lys
NM_001354899.2:c.4645G>A	NP_001341828.1:p.Glu1549Lys
NM_001354900.2:c.4606G>A	NP_001341829.1:p.Glu1536Lys
NM_001354901.2:c.4552G>A	NP_001341830.1:p.Glu1518Lys
NM_001354902.2:c.4456G>A	NP_001341831.1:p.Glu1486Lys
NM_001354903.2:c.4426G>A	NP_001341832.1:p.Glu1476Lys
NM_001354904.2:c.4351G>A	NP_001341833.1:p.Glu1451Lys
NM_001354905.2:c.4249G>A	NP_001341834.1:p.Glu1417Lys
NM_001354906.2:c.3880G>A	NP_001341835.1:p.Glu1294Lys