Canonical Allele Identifier: CA16028811

Gene: APC

Linked Data

• dbSNP Id: rs2149891369
• MyVariant Identifiers: chr5:g.112174702T>G (hg19) ; chr5:g.112839005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839005T>G , CM000667.2:g.112839005T>G	GRCh38
NC_000005.9:g.112174702T>G , CM000667.1:g.112174702T>G	GRCh37
NC_000005.8:g.112202601T>G	NCBI36
NG_008481.4:g.151485T>G , LRG_130:g.151485T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3076T>G	ENSP00000484935.2:n.3076T>G
ENST00000504915.3:c.3465T>G	ENSP00000473355.2:p.Asp1155Glu
ENST00000505350.2:c.*3417T>G	ENSP00000481752.1:n.*3417T>G
ENST00000507379.6:c.3357T>G	ENSP00000423224.2:p.Asp1119Glu
ENST00000509732.6:c.3411T>G	ENSP00000426541.2:p.Asp1137Glu
ENST00000512211.7:c.3411T>G	ENSP00000423828.3:p.Asp1137Glu
ENST00000257430.9:c.3411T>G MANE Select	ENSP00000257430.4:p.Asp1137Glu
ENST00000257430.8:c.3411T>G	ENSP00000257430.4:p.Asp1137Glu
ENST00000502371.2:c.1764T>G
ENST00000507379.5:c.3357T>G	ENSP00000423224.1:p.Asp1119Glu
ENST00000508376.6:c.3411T>G	ENSP00000427089.2:p.Asp1137Glu
ENST00000508624.5:c.*2733T>G	ENSP00000424265.1:n.*2733T>G
ENST00000512211.6:c.3411T>G	ENSP00000423828.2:p.Asp1137Glu
ENST00000520401.1:c.230+10033T>G
NM_000038.5:c.3411T>G	NP_000029.2:p.Asp1137Glu
NM_001127510.2:c.3411T>G	NP_001120982.1:p.Asp1137Glu
NM_001127511.2:c.3357T>G	NP_001120983.2:p.Asp1119Glu
NM_001354895.1:c.3411T>G	NP_001341824.1:p.Asp1137Glu
NM_001354896.1:c.3465T>G	NP_001341825.1:p.Asp1155Glu
NM_001354897.1:c.3441T>G	NP_001341826.1:p.Asp1147Glu
NM_001354898.1:c.3336T>G	NP_001341827.1:p.Asp1112Glu
NM_001354899.1:c.3327T>G	NP_001341828.1:p.Asp1109Glu
NM_001354900.1:c.3288T>G	NP_001341829.1:p.Asp1096Glu
NM_001354901.1:c.3234T>G	NP_001341830.1:p.Asp1078Glu
NM_001354902.1:c.3138T>G	NP_001341831.1:p.Asp1046Glu
NM_001354903.1:c.3108T>G	NP_001341832.1:p.Asp1036Glu
NM_001354904.1:c.3033T>G	NP_001341833.1:p.Asp1011Glu
NM_001354905.1:c.2931T>G	NP_001341834.1:p.Asp977Glu
NM_001354906.1:c.2562T>G	NP_001341835.1:p.Asp854Glu
NM_000038.6:c.3411T>G MANE Select	NP_000029.2:p.Asp1137Glu
NM_001127510.3:c.3411T>G	NP_001120982.1:p.Asp1137Glu
NM_001127511.3:c.3357T>G	NP_001120983.2:p.Asp1119Glu
NM_001354895.2:c.3411T>G	NP_001341824.1:p.Asp1137Glu
NM_001354896.2:c.3465T>G	NP_001341825.1:p.Asp1155Glu
NM_001354897.2:c.3441T>G	NP_001341826.1:p.Asp1147Glu
NM_001354898.2:c.3336T>G	NP_001341827.1:p.Asp1112Glu
NM_001354899.2:c.3327T>G	NP_001341828.1:p.Asp1109Glu
NM_001354900.2:c.3288T>G	NP_001341829.1:p.Asp1096Glu
NM_001354901.2:c.3234T>G	NP_001341830.1:p.Asp1078Glu
NM_001354902.2:c.3138T>G	NP_001341831.1:p.Asp1046Glu
NM_001354903.2:c.3108T>G	NP_001341832.1:p.Asp1036Glu
NM_001354904.2:c.3033T>G	NP_001341833.1:p.Asp1011Glu
NM_001354905.2:c.2931T>G	NP_001341834.1:p.Asp977Glu
NM_001354906.2:c.2562T>G	NP_001341835.1:p.Asp854Glu