Canonical Allele Identifier: CA16028130

Gene: APC

Linked Data

• dbSNP Id: rs2149884384
• MyVariant Identifiers: chr5:g.112174394C>A (hg19) ; chr5:g.112838697C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838697C>A , CM000667.2:g.112838697C>A	GRCh38
NC_000005.9:g.112174394C>A , CM000667.1:g.112174394C>A	GRCh37
NC_000005.8:g.112202293C>A	NCBI36
NG_008481.4:g.151177C>A , LRG_130:g.151177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2768C>A	ENSP00000484935.2:n.2768C>A
ENST00000504915.3:c.3157C>A	ENSP00000473355.2:p.Gln1053Lys
ENST00000505350.2:c.*3109C>A	ENSP00000481752.1:n.*3109C>A
ENST00000507379.6:c.3049C>A	ENSP00000423224.2:p.Gln1017Lys
ENST00000509732.6:c.3103C>A	ENSP00000426541.2:p.Gln1035Lys
ENST00000512211.7:c.3103C>A	ENSP00000423828.3:p.Gln1035Lys
ENST00000257430.9:c.3103C>A MANE Select	ENSP00000257430.4:p.Gln1035Lys
ENST00000257430.8:c.3103C>A	ENSP00000257430.4:p.Gln1035Lys
ENST00000502371.2:c.1456C>A
ENST00000507379.5:c.3049C>A	ENSP00000423224.1:p.Gln1017Lys
ENST00000508376.6:c.3103C>A	ENSP00000427089.2:p.Gln1035Lys
ENST00000508624.5:c.*2425C>A	ENSP00000424265.1:n.*2425C>A
ENST00000512211.6:c.3103C>A	ENSP00000423828.2:p.Gln1035Lys
ENST00000520401.1:c.230+9725C>A
NM_000038.5:c.3103C>A	NP_000029.2:p.Gln1035Lys
NM_001127510.2:c.3103C>A	NP_001120982.1:p.Gln1035Lys
NM_001127511.2:c.3049C>A	NP_001120983.2:p.Gln1017Lys
NM_001354895.1:c.3103C>A	NP_001341824.1:p.Gln1035Lys
NM_001354896.1:c.3157C>A	NP_001341825.1:p.Gln1053Lys
NM_001354897.1:c.3133C>A	NP_001341826.1:p.Gln1045Lys
NM_001354898.1:c.3028C>A	NP_001341827.1:p.Gln1010Lys
NM_001354899.1:c.3019C>A	NP_001341828.1:p.Gln1007Lys
NM_001354900.1:c.2980C>A	NP_001341829.1:p.Gln994Lys
NM_001354901.1:c.2926C>A	NP_001341830.1:p.Gln976Lys
NM_001354902.1:c.2830C>A	NP_001341831.1:p.Gln944Lys
NM_001354903.1:c.2800C>A	NP_001341832.1:p.Gln934Lys
NM_001354904.1:c.2725C>A	NP_001341833.1:p.Gln909Lys
NM_001354905.1:c.2623C>A	NP_001341834.1:p.Gln875Lys
NM_001354906.1:c.2254C>A	NP_001341835.1:p.Gln752Lys
NM_000038.6:c.3103C>A MANE Select	NP_000029.2:p.Gln1035Lys
NM_001127510.3:c.3103C>A	NP_001120982.1:p.Gln1035Lys
NM_001127511.3:c.3049C>A	NP_001120983.2:p.Gln1017Lys
NM_001354895.2:c.3103C>A	NP_001341824.1:p.Gln1035Lys
NM_001354896.2:c.3157C>A	NP_001341825.1:p.Gln1053Lys
NM_001354897.2:c.3133C>A	NP_001341826.1:p.Gln1045Lys
NM_001354898.2:c.3028C>A	NP_001341827.1:p.Gln1010Lys
NM_001354899.2:c.3019C>A	NP_001341828.1:p.Gln1007Lys
NM_001354900.2:c.2980C>A	NP_001341829.1:p.Gln994Lys
NM_001354901.2:c.2926C>A	NP_001341830.1:p.Gln976Lys
NM_001354902.2:c.2830C>A	NP_001341831.1:p.Gln944Lys
NM_001354903.2:c.2800C>A	NP_001341832.1:p.Gln934Lys
NM_001354904.2:c.2725C>A	NP_001341833.1:p.Gln909Lys
NM_001354905.2:c.2623C>A	NP_001341834.1:p.Gln875Lys
NM_001354906.2:c.2254C>A	NP_001341835.1:p.Gln752Lys