Canonical Allele Identifier: CA446209631

Gene: APC

Linked Data

• dbSNP Id: rs2149934248
• MyVariant Identifiers: chr5:g.112176481T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840784T>A , CM000667.2:g.112840784T>A	GRCh38
NC_000005.9:g.112176481T>A , CM000667.1:g.112176481T>A	GRCh37
NC_000005.8:g.112204380T>A	NCBI36
NG_008481.4:g.153264T>A , LRG_130:g.153264T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5244T>A	ENSP00000473355.2:p.Ser1748=
ENST00000505350.2:c.*5196T>A	ENSP00000481752.1:n.*5196T>A
ENST00000507379.6:c.5136T>A	ENSP00000423224.2:p.Ser1712=
ENST00000509732.6:c.5190T>A	ENSP00000426541.2:p.Ser1730=
ENST00000512211.7:c.5190T>A	ENSP00000423828.3:p.Ser1730=
ENST00000257430.9:c.5190T>A MANE Select	ENSP00000257430.4:p.Ser1730=
ENST00000257430.8:c.5190T>A	ENSP00000257430.4:p.Ser1730=
ENST00000508376.6:c.5190T>A	ENSP00000427089.2:p.Ser1730=
ENST00000508624.5:c.*4512T>A	ENSP00000424265.1:n.*4512T>A
ENST00000520401.1:c.230+11812T>A
NM_000038.5:c.5190T>A	NP_000029.2:p.Ser1730=
NM_001127510.2:c.5190T>A	NP_001120982.1:p.Ser1730=
NM_001127511.2:c.5136T>A	NP_001120983.2:p.Ser1712=
NM_001354895.1:c.5190T>A	NP_001341824.1:p.Ser1730=
NM_001354896.1:c.5244T>A	NP_001341825.1:p.Ser1748=
NM_001354897.1:c.5220T>A	NP_001341826.1:p.Ser1740=
NM_001354898.1:c.5115T>A	NP_001341827.1:p.Ser1705=
NM_001354899.1:c.5106T>A	NP_001341828.1:p.Ser1702=
NM_001354900.1:c.5067T>A	NP_001341829.1:p.Ser1689=
NM_001354901.1:c.5013T>A	NP_001341830.1:p.Ser1671=
NM_001354902.1:c.4917T>A	NP_001341831.1:p.Ser1639=
NM_001354903.1:c.4887T>A	NP_001341832.1:p.Ser1629=
NM_001354904.1:c.4812T>A	NP_001341833.1:p.Ser1604=
NM_001354905.1:c.4710T>A	NP_001341834.1:p.Ser1570=
NM_001354906.1:c.4341T>A	NP_001341835.1:p.Ser1447=
NM_000038.6:c.5190T>A MANE Select	NP_000029.2:p.Ser1730=
NM_001127510.3:c.5190T>A	NP_001120982.1:p.Ser1730=
NM_001127511.3:c.5136T>A	NP_001120983.2:p.Ser1712=
NM_001354895.2:c.5190T>A	NP_001341824.1:p.Ser1730=
NM_001354896.2:c.5244T>A	NP_001341825.1:p.Ser1748=
NM_001354897.2:c.5220T>A	NP_001341826.1:p.Ser1740=
NM_001354898.2:c.5115T>A	NP_001341827.1:p.Ser1705=
NM_001354899.2:c.5106T>A	NP_001341828.1:p.Ser1702=
NM_001354900.2:c.5067T>A	NP_001341829.1:p.Ser1689=
NM_001354901.2:c.5013T>A	NP_001341830.1:p.Ser1671=
NM_001354902.2:c.4917T>A	NP_001341831.1:p.Ser1639=
NM_001354903.2:c.4887T>A	NP_001341832.1:p.Ser1629=
NM_001354904.2:c.4812T>A	NP_001341833.1:p.Ser1604=
NM_001354905.2:c.4710T>A	NP_001341834.1:p.Ser1570=
NM_001354906.2:c.4341T>A	NP_001341835.1:p.Ser1447=