Canonical Allele Identifier: CA16032219

Gene: APC

Linked Data

• dbSNP Id: rs2149928930
• MyVariant Identifiers: chr5:g.112176265T>A (hg19) ; chr5:g.112840568T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840568T>A , CM000667.2:g.112840568T>A	GRCh38
NC_000005.9:g.112176265T>A , CM000667.1:g.112176265T>A	GRCh37
NC_000005.8:g.112204164T>A	NCBI36
NG_008481.4:g.153048T>A , LRG_130:g.153048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5028T>A	ENSP00000473355.2:p.Ser1676Arg
ENST00000505350.2:c.*4980T>A	ENSP00000481752.1:n.*4980T>A
ENST00000507379.6:c.4920T>A	ENSP00000423224.2:p.Ser1640Arg
ENST00000509732.6:c.4974T>A	ENSP00000426541.2:p.Ser1658Arg
ENST00000512211.7:c.4974T>A	ENSP00000423828.3:p.Ser1658Arg
ENST00000257430.9:c.4974T>A MANE Select	ENSP00000257430.4:p.Ser1658Arg
ENST00000257430.8:c.4974T>A	ENSP00000257430.4:p.Ser1658Arg
ENST00000508376.6:c.4974T>A	ENSP00000427089.2:p.Ser1658Arg
ENST00000508624.5:c.*4296T>A	ENSP00000424265.1:n.*4296T>A
ENST00000520401.1:c.230+11596T>A
NM_000038.5:c.4974T>A	NP_000029.2:p.Ser1658Arg
NM_001127510.2:c.4974T>A	NP_001120982.1:p.Ser1658Arg
NM_001127511.2:c.4920T>A	NP_001120983.2:p.Ser1640Arg
NM_001354895.1:c.4974T>A	NP_001341824.1:p.Ser1658Arg
NM_001354896.1:c.5028T>A	NP_001341825.1:p.Ser1676Arg
NM_001354897.1:c.5004T>A	NP_001341826.1:p.Ser1668Arg
NM_001354898.1:c.4899T>A	NP_001341827.1:p.Ser1633Arg
NM_001354899.1:c.4890T>A	NP_001341828.1:p.Ser1630Arg
NM_001354900.1:c.4851T>A	NP_001341829.1:p.Ser1617Arg
NM_001354901.1:c.4797T>A	NP_001341830.1:p.Ser1599Arg
NM_001354902.1:c.4701T>A	NP_001341831.1:p.Ser1567Arg
NM_001354903.1:c.4671T>A	NP_001341832.1:p.Ser1557Arg
NM_001354904.1:c.4596T>A	NP_001341833.1:p.Ser1532Arg
NM_001354905.1:c.4494T>A	NP_001341834.1:p.Ser1498Arg
NM_001354906.1:c.4125T>A	NP_001341835.1:p.Ser1375Arg
NM_000038.6:c.4974T>A MANE Select	NP_000029.2:p.Ser1658Arg
NM_001127510.3:c.4974T>A	NP_001120982.1:p.Ser1658Arg
NM_001127511.3:c.4920T>A	NP_001120983.2:p.Ser1640Arg
NM_001354895.2:c.4974T>A	NP_001341824.1:p.Ser1658Arg
NM_001354896.2:c.5028T>A	NP_001341825.1:p.Ser1676Arg
NM_001354897.2:c.5004T>A	NP_001341826.1:p.Ser1668Arg
NM_001354898.2:c.4899T>A	NP_001341827.1:p.Ser1633Arg
NM_001354899.2:c.4890T>A	NP_001341828.1:p.Ser1630Arg
NM_001354900.2:c.4851T>A	NP_001341829.1:p.Ser1617Arg
NM_001354901.2:c.4797T>A	NP_001341830.1:p.Ser1599Arg
NM_001354902.2:c.4701T>A	NP_001341831.1:p.Ser1567Arg
NM_001354903.2:c.4671T>A	NP_001341832.1:p.Ser1557Arg
NM_001354904.2:c.4596T>A	NP_001341833.1:p.Ser1532Arg
NM_001354905.2:c.4494T>A	NP_001341834.1:p.Ser1498Arg
NM_001354906.2:c.4125T>A	NP_001341835.1:p.Ser1375Arg