Canonical Allele Identifier: CA445758415

Gene: APC

Linked Data

• dbSNP Id: rs2149841148
• MyVariant Identifiers: chr5:g.112170671G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834974G>A , CM000667.2:g.112834974G>A	GRCh38
NC_000005.9:g.112170671G>A , CM000667.1:g.112170671G>A	GRCh37
NC_000005.8:g.112198570G>A	NCBI36
NG_008481.4:g.147454G>A , LRG_130:g.147454G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1432G>A	ENSP00000484935.2:p.Glu478Lys
ENST00000504915.3:c.1821G>A	ENSP00000473355.2:p.Leu607=
ENST00000505350.2:c.*1773G>A	ENSP00000481752.1:n.*1773G>A
ENST00000507379.6:c.1713G>A	ENSP00000423224.2:p.Leu571=
ENST00000509732.6:c.1767G>A	ENSP00000426541.2:p.Leu589=
ENST00000512211.7:c.1767G>A	ENSP00000423828.3:p.Leu589=
ENST00000257430.9:c.1767G>A MANE Select	ENSP00000257430.4:p.Leu589=
ENST00000257430.8:c.1767G>A	ENSP00000257430.4:p.Leu589=
ENST00000502371.2:c.120G>A
ENST00000504915.2:c.456G>A	ENSP00000473355.1:p.Leu152=
ENST00000507379.5:c.1713G>A	ENSP00000423224.1:p.Leu571=
ENST00000508376.6:c.1767G>A	ENSP00000427089.2:p.Leu589=
ENST00000508624.5:c.*1089G>A	ENSP00000424265.1:n.*1089G>A
ENST00000512211.6:c.1767G>A	ENSP00000423828.2:p.Leu589=
ENST00000520401.1:c.230+6002G>A
NM_000038.5:c.1767G>A	NP_000029.2:p.Leu589=
NM_001127510.2:c.1767G>A	NP_001120982.1:p.Leu589=
NM_001127511.2:c.1713G>A	NP_001120983.2:p.Leu571=
NM_001354895.1:c.1767G>A	NP_001341824.1:p.Leu589=
NM_001354896.1:c.1821G>A	NP_001341825.1:p.Leu607=
NM_001354897.1:c.1797G>A	NP_001341826.1:p.Leu599=
NM_001354898.1:c.1692G>A	NP_001341827.1:p.Leu564=
NM_001354899.1:c.1683G>A	NP_001341828.1:p.Leu561=
NM_001354900.1:c.1644G>A	NP_001341829.1:p.Leu548=
NM_001354901.1:c.1590G>A	NP_001341830.1:p.Leu530=
NM_001354902.1:c.1494G>A	NP_001341831.1:p.Leu498=
NM_001354903.1:c.1464G>A	NP_001341832.1:p.Leu488=
NM_001354904.1:c.1389G>A	NP_001341833.1:p.Leu463=
NM_001354905.1:c.1287G>A	NP_001341834.1:p.Leu429=
NM_001354906.1:c.918G>A	NP_001341835.1:p.Leu306=
NM_000038.6:c.1767G>A MANE Select	NP_000029.2:p.Leu589=
NM_001127510.3:c.1767G>A	NP_001120982.1:p.Leu589=
NM_001127511.3:c.1713G>A	NP_001120983.2:p.Leu571=
NM_001354895.2:c.1767G>A	NP_001341824.1:p.Leu589=
NM_001354896.2:c.1821G>A	NP_001341825.1:p.Leu607=
NM_001354897.2:c.1797G>A	NP_001341826.1:p.Leu599=
NM_001354898.2:c.1692G>A	NP_001341827.1:p.Leu564=
NM_001354899.2:c.1683G>A	NP_001341828.1:p.Leu561=
NM_001354900.2:c.1644G>A	NP_001341829.1:p.Leu548=
NM_001354901.2:c.1590G>A	NP_001341830.1:p.Leu530=
NM_001354902.2:c.1494G>A	NP_001341831.1:p.Leu498=
NM_001354903.2:c.1464G>A	NP_001341832.1:p.Leu488=
NM_001354904.2:c.1389G>A	NP_001341833.1:p.Leu463=
NM_001354905.2:c.1287G>A	NP_001341834.1:p.Leu429=
NM_001354906.2:c.918G>A	NP_001341835.1:p.Leu306=