Canonical Allele Identifier: CA16028021

Gene: APC

Linked Data

• MyVariant Identifiers: chr5:g.112174345T>A (hg19) ; chr5:g.112838648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838648T>A , CM000667.2:g.112838648T>A	GRCh38
NC_000005.9:g.112174345T>A , CM000667.1:g.112174345T>A	GRCh37
NC_000005.8:g.112202244T>A	NCBI36
NG_008481.4:g.151128T>A , LRG_130:g.151128T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.2719T>A	ENSP00000484935.2:n.2719T>A
ENST00000504915.3:c.3108T>A	ENSP00000473355.2:p.Asp1036Glu
ENST00000505350.2:c.*3060T>A	ENSP00000481752.1:n.*3060T>A
ENST00000507379.6:c.3000T>A	ENSP00000423224.2:p.Asp1000Glu
ENST00000509732.6:c.3054T>A	ENSP00000426541.2:p.Asp1018Glu
ENST00000512211.7:c.3054T>A	ENSP00000423828.3:p.Asp1018Glu
ENST00000257430.9:c.3054T>A MANE Select	ENSP00000257430.4:p.Asp1018Glu
ENST00000257430.8:c.3054T>A	ENSP00000257430.4:p.Asp1018Glu
ENST00000502371.2:c.1407T>A
ENST00000507379.5:c.3000T>A	ENSP00000423224.1:p.Asp1000Glu
ENST00000508376.6:c.3054T>A	ENSP00000427089.2:p.Asp1018Glu
ENST00000508624.5:c.*2376T>A	ENSP00000424265.1:n.*2376T>A
ENST00000512211.6:c.3054T>A	ENSP00000423828.2:p.Asp1018Glu
ENST00000520401.1:c.230+9676T>A
NM_000038.5:c.3054T>A	NP_000029.2:p.Asp1018Glu
NM_001127510.2:c.3054T>A	NP_001120982.1:p.Asp1018Glu
NM_001127511.2:c.3000T>A	NP_001120983.2:p.Asp1000Glu
NM_001354895.1:c.3054T>A	NP_001341824.1:p.Asp1018Glu
NM_001354896.1:c.3108T>A	NP_001341825.1:p.Asp1036Glu
NM_001354897.1:c.3084T>A	NP_001341826.1:p.Asp1028Glu
NM_001354898.1:c.2979T>A	NP_001341827.1:p.Asp993Glu
NM_001354899.1:c.2970T>A	NP_001341828.1:p.Asp990Glu
NM_001354900.1:c.2931T>A	NP_001341829.1:p.Asp977Glu
NM_001354901.1:c.2877T>A	NP_001341830.1:p.Asp959Glu
NM_001354902.1:c.2781T>A	NP_001341831.1:p.Asp927Glu
NM_001354903.1:c.2751T>A	NP_001341832.1:p.Asp917Glu
NM_001354904.1:c.2676T>A	NP_001341833.1:p.Asp892Glu
NM_001354905.1:c.2574T>A	NP_001341834.1:p.Asp858Glu
NM_001354906.1:c.2205T>A	NP_001341835.1:p.Asp735Glu
NM_000038.6:c.3054T>A MANE Select	NP_000029.2:p.Asp1018Glu
NM_001127510.3:c.3054T>A	NP_001120982.1:p.Asp1018Glu
NM_001127511.3:c.3000T>A	NP_001120983.2:p.Asp1000Glu
NM_001354895.2:c.3054T>A	NP_001341824.1:p.Asp1018Glu
NM_001354896.2:c.3108T>A	NP_001341825.1:p.Asp1036Glu
NM_001354897.2:c.3084T>A	NP_001341826.1:p.Asp1028Glu
NM_001354898.2:c.2979T>A	NP_001341827.1:p.Asp993Glu
NM_001354899.2:c.2970T>A	NP_001341828.1:p.Asp990Glu
NM_001354900.2:c.2931T>A	NP_001341829.1:p.Asp977Glu
NM_001354901.2:c.2877T>A	NP_001341830.1:p.Asp959Glu
NM_001354902.2:c.2781T>A	NP_001341831.1:p.Asp927Glu
NM_001354903.2:c.2751T>A	NP_001341832.1:p.Asp917Glu
NM_001354904.2:c.2676T>A	NP_001341833.1:p.Asp892Glu
NM_001354905.2:c.2574T>A	NP_001341834.1:p.Asp858Glu
NM_001354906.2:c.2205T>A	NP_001341835.1:p.Asp735Glu