Canonical Allele Identifier: CA16023948

Gene: APC

Linked Data

• dbSNP Id: rs2149782533
• MyVariant Identifiers: chr5:g.112154937A>G (hg19) ; chr5:g.112819240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819240A>G , CM000667.2:g.112819240A>G	GRCh38
NC_000005.9:g.112154937A>G , CM000667.1:g.112154937A>G	GRCh37
NC_000005.8:g.112182836A>G	NCBI36
NG_008481.4:g.131720A>G , LRG_130:g.131720A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1208A>G	ENSP00000484935.2:p.Glu403Gly
ENST00000504915.3:c.1208A>G	ENSP00000473355.2:p.Glu403Gly
ENST00000505084.2:n.1264A>G
ENST00000505350.2:c.*1214A>G	ENSP00000481752.1:n.*1214A>G
ENST00000507379.6:c.1154A>G	ENSP00000423224.2:p.Glu385Gly
ENST00000509732.6:c.1208A>G	ENSP00000426541.2:p.Glu403Gly
ENST00000512211.7:c.1208A>G	ENSP00000423828.3:p.Glu403Gly
ENST00000257430.9:c.1208A>G MANE Select	ENSP00000257430.4:p.Glu403Gly
ENST00000257430.8:c.1208A>G	ENSP00000257430.4:p.Glu403Gly
ENST00000507379.5:c.1154A>G	ENSP00000423224.1:p.Glu385Gly
ENST00000508376.6:c.1208A>G	ENSP00000427089.2:p.Glu403Gly
ENST00000508624.5:c.*530A>G	ENSP00000424265.1:n.*530A>G
ENST00000512211.6:c.1208A>G	ENSP00000423828.2:p.Glu403Gly
NM_000038.5:c.1208A>G	NP_000029.2:p.Glu403Gly
NM_001127510.2:c.1208A>G	NP_001120982.1:p.Glu403Gly
NM_001127511.2:c.1154A>G	NP_001120983.2:p.Glu385Gly
NM_001354895.1:c.1208A>G	NP_001341824.1:p.Glu403Gly
NM_001354896.1:c.1208A>G	NP_001341825.1:p.Glu403Gly
NM_001354897.1:c.1238A>G	NP_001341826.1:p.Glu413Gly
NM_001354898.1:c.1133A>G	NP_001341827.1:p.Glu378Gly
NM_001354899.1:c.1124A>G	NP_001341828.1:p.Glu375Gly
NM_001354900.1:c.1031A>G	NP_001341829.1:p.Glu344Gly
NM_001354901.1:c.1031A>G	NP_001341830.1:p.Glu344Gly
NM_001354902.1:c.964-29A>G	NP_001341831.1:n.964-29A>G
NM_001354903.1:c.934-29A>G	NP_001341832.1:n.934-29A>G
NM_001354904.1:c.859-29A>G	NP_001341833.1:n.859-29A>G
NM_001354905.1:c.757-29A>G	NP_001341834.1:n.757-29A>G
NM_001354906.1:c.359A>G	NP_001341835.1:p.Glu120Gly
NM_000038.6:c.1208A>G MANE Select	NP_000029.2:p.Glu403Gly
NM_001127510.3:c.1208A>G	NP_001120982.1:p.Glu403Gly
NM_001127511.3:c.1154A>G	NP_001120983.2:p.Glu385Gly
NM_001354895.2:c.1208A>G	NP_001341824.1:p.Glu403Gly
NM_001354896.2:c.1208A>G	NP_001341825.1:p.Glu403Gly
NM_001354897.2:c.1238A>G	NP_001341826.1:p.Glu413Gly
NM_001354898.2:c.1133A>G	NP_001341827.1:p.Glu378Gly
NM_001354899.2:c.1124A>G	NP_001341828.1:p.Glu375Gly
NM_001354900.2:c.1031A>G	NP_001341829.1:p.Glu344Gly
NM_001354901.2:c.1031A>G	NP_001341830.1:p.Glu344Gly
NM_001354902.2:c.964-29A>G	NP_001341831.1:n.964-29A>G
NM_001354903.2:c.934-29A>G	NP_001341832.1:n.934-29A>G
NM_001354904.2:c.859-29A>G	NP_001341833.1:n.859-29A>G
NM_001354905.2:c.757-29A>G	NP_001341834.1:n.757-29A>G
NM_001354906.2:c.359A>G	NP_001341835.1:p.Glu120Gly