Canonical Allele Identifier: CA16025263

Gene: APC

Linked Data

• dbSNP Id: rs1554083140
• MyVariant Identifiers: chr5:g.112170706A>T (hg19) ; chr5:g.112835009A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835009A>T , CM000667.2:g.112835009A>T	GRCh38
NC_000005.9:g.112170706A>T , CM000667.1:g.112170706A>T	GRCh37
NC_000005.8:g.112198605A>T	NCBI36
NG_008481.4:g.147489A>T , LRG_130:g.147489A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1467A>T	ENSP00000484935.2:p.Ter489Cys
ENST00000504915.3:c.1856A>T	ENSP00000473355.2:p.Glu619Val
ENST00000505350.2:c.*1808A>T	ENSP00000481752.1:n.*1808A>T
ENST00000507379.6:c.1748A>T	ENSP00000423224.2:p.Glu583Val
ENST00000509732.6:c.1802A>T	ENSP00000426541.2:p.Glu601Val
ENST00000512211.7:c.1802A>T	ENSP00000423828.3:p.Glu601Val
ENST00000257430.9:c.1802A>T MANE Select	ENSP00000257430.4:p.Glu601Val
ENST00000257430.8:c.1802A>T	ENSP00000257430.4:p.Glu601Val
ENST00000502371.2:c.155A>T
ENST00000504915.2:c.491A>T	ENSP00000473355.1:p.Glu164Val
ENST00000507379.5:c.1748A>T	ENSP00000423224.1:p.Glu583Val
ENST00000508376.6:c.1802A>T	ENSP00000427089.2:p.Glu601Val
ENST00000508624.5:c.*1124A>T	ENSP00000424265.1:n.*1124A>T
ENST00000512211.6:c.1802A>T	ENSP00000423828.2:p.Glu601Val
ENST00000520401.1:c.230+6037A>T
NM_000038.5:c.1802A>T	NP_000029.2:p.Glu601Val
NM_001127510.2:c.1802A>T	NP_001120982.1:p.Glu601Val
NM_001127511.2:c.1748A>T	NP_001120983.2:p.Glu583Val
NM_001354895.1:c.1802A>T	NP_001341824.1:p.Glu601Val
NM_001354896.1:c.1856A>T	NP_001341825.1:p.Glu619Val
NM_001354897.1:c.1832A>T	NP_001341826.1:p.Glu611Val
NM_001354898.1:c.1727A>T	NP_001341827.1:p.Glu576Val
NM_001354899.1:c.1718A>T	NP_001341828.1:p.Glu573Val
NM_001354900.1:c.1679A>T	NP_001341829.1:p.Glu560Val
NM_001354901.1:c.1625A>T	NP_001341830.1:p.Glu542Val
NM_001354902.1:c.1529A>T	NP_001341831.1:p.Glu510Val
NM_001354903.1:c.1499A>T	NP_001341832.1:p.Glu500Val
NM_001354904.1:c.1424A>T	NP_001341833.1:p.Glu475Val
NM_001354905.1:c.1322A>T	NP_001341834.1:p.Glu441Val
NM_001354906.1:c.953A>T	NP_001341835.1:p.Glu318Val
NM_000038.6:c.1802A>T MANE Select	NP_000029.2:p.Glu601Val
NM_001127510.3:c.1802A>T	NP_001120982.1:p.Glu601Val
NM_001127511.3:c.1748A>T	NP_001120983.2:p.Glu583Val
NM_001354895.2:c.1802A>T	NP_001341824.1:p.Glu601Val
NM_001354896.2:c.1856A>T	NP_001341825.1:p.Glu619Val
NM_001354897.2:c.1832A>T	NP_001341826.1:p.Glu611Val
NM_001354898.2:c.1727A>T	NP_001341827.1:p.Glu576Val
NM_001354899.2:c.1718A>T	NP_001341828.1:p.Glu573Val
NM_001354900.2:c.1679A>T	NP_001341829.1:p.Glu560Val
NM_001354901.2:c.1625A>T	NP_001341830.1:p.Glu542Val
NM_001354902.2:c.1529A>T	NP_001341831.1:p.Glu510Val
NM_001354903.2:c.1499A>T	NP_001341832.1:p.Glu500Val
NM_001354904.2:c.1424A>T	NP_001341833.1:p.Glu475Val
NM_001354905.2:c.1322A>T	NP_001341834.1:p.Glu441Val
NM_001354906.2:c.953A>T	NP_001341835.1:p.Glu318Val