Canonical Allele Identifier: CA16025258

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112170705G>A (hg19) ; chr5:g.112835008G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112835008G>A , CM000667.2:g.112835008G>A	GRCh38
NC_000005.9:g.112170705G>A , CM000667.1:g.112170705G>A	GRCh37
NC_000005.8:g.112198604G>A	NCBI36
NG_008481.4:g.147488G>A , LRG_130:g.147488G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1466G>A	ENSP00000484935.2:p.Ter489=
ENST00000504915.3:c.1855G>A	ENSP00000473355.2:p.Glu619Lys
ENST00000505350.2:c.*1807G>A	ENSP00000481752.1:n.*1807G>A
ENST00000507379.6:c.1747G>A	ENSP00000423224.2:p.Glu583Lys
ENST00000509732.6:c.1801G>A	ENSP00000426541.2:p.Glu601Lys
ENST00000512211.7:c.1801G>A	ENSP00000423828.3:p.Glu601Lys
ENST00000257430.9:c.1801G>A MANE Select	ENSP00000257430.4:p.Glu601Lys
ENST00000257430.8:c.1801G>A	ENSP00000257430.4:p.Glu601Lys
ENST00000502371.2:c.154G>A
ENST00000504915.2:c.490G>A	ENSP00000473355.1:p.Glu164Lys
ENST00000507379.5:c.1747G>A	ENSP00000423224.1:p.Glu583Lys
ENST00000508376.6:c.1801G>A	ENSP00000427089.2:p.Glu601Lys
ENST00000508624.5:c.*1123G>A	ENSP00000424265.1:n.*1123G>A
ENST00000512211.6:c.1801G>A	ENSP00000423828.2:p.Glu601Lys
ENST00000520401.1:c.230+6036G>A
NM_000038.5:c.1801G>A	NP_000029.2:p.Glu601Lys
NM_001127510.2:c.1801G>A	NP_001120982.1:p.Glu601Lys
NM_001127511.2:c.1747G>A	NP_001120983.2:p.Glu583Lys
NM_001354895.1:c.1801G>A	NP_001341824.1:p.Glu601Lys
NM_001354896.1:c.1855G>A	NP_001341825.1:p.Glu619Lys
NM_001354897.1:c.1831G>A	NP_001341826.1:p.Glu611Lys
NM_001354898.1:c.1726G>A	NP_001341827.1:p.Glu576Lys
NM_001354899.1:c.1717G>A	NP_001341828.1:p.Glu573Lys
NM_001354900.1:c.1678G>A	NP_001341829.1:p.Glu560Lys
NM_001354901.1:c.1624G>A	NP_001341830.1:p.Glu542Lys
NM_001354902.1:c.1528G>A	NP_001341831.1:p.Glu510Lys
NM_001354903.1:c.1498G>A	NP_001341832.1:p.Glu500Lys
NM_001354904.1:c.1423G>A	NP_001341833.1:p.Glu475Lys
NM_001354905.1:c.1321G>A	NP_001341834.1:p.Glu441Lys
NM_001354906.1:c.952G>A	NP_001341835.1:p.Glu318Lys
NM_000038.6:c.1801G>A MANE Select	NP_000029.2:p.Glu601Lys
NM_001127510.3:c.1801G>A	NP_001120982.1:p.Glu601Lys
NM_001127511.3:c.1747G>A	NP_001120983.2:p.Glu583Lys
NM_001354895.2:c.1801G>A	NP_001341824.1:p.Glu601Lys
NM_001354896.2:c.1855G>A	NP_001341825.1:p.Glu619Lys
NM_001354897.2:c.1831G>A	NP_001341826.1:p.Glu611Lys
NM_001354898.2:c.1726G>A	NP_001341827.1:p.Glu576Lys
NM_001354899.2:c.1717G>A	NP_001341828.1:p.Glu573Lys
NM_001354900.2:c.1678G>A	NP_001341829.1:p.Glu560Lys
NM_001354901.2:c.1624G>A	NP_001341830.1:p.Glu542Lys
NM_001354902.2:c.1528G>A	NP_001341831.1:p.Glu510Lys
NM_001354903.2:c.1498G>A	NP_001341832.1:p.Glu500Lys
NM_001354904.2:c.1423G>A	NP_001341833.1:p.Glu475Lys
NM_001354905.2:c.1321G>A	NP_001341834.1:p.Glu441Lys
NM_001354906.2:c.952G>A	NP_001341835.1:p.Glu318Lys