Canonical Allele Identifier: CA16029531

Gene: APC

Linked Data

• dbSNP Id: rs2149898043
• MyVariant Identifiers: chr5:g.112175027G>A (hg19) ; chr5:g.112839330G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839330G>A , CM000667.2:g.112839330G>A	GRCh38
NC_000005.9:g.112175027G>A , CM000667.1:g.112175027G>A	GRCh37
NC_000005.8:g.112202926G>A	NCBI36
NG_008481.4:g.151810G>A , LRG_130:g.151810G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3401G>A	ENSP00000484935.2:n.3401G>A
ENST00000504915.3:c.3790G>A	ENSP00000473355.2:p.Ala1264Thr
ENST00000505350.2:c.*3742G>A	ENSP00000481752.1:n.*3742G>A
ENST00000507379.6:c.3682G>A	ENSP00000423224.2:p.Ala1228Thr
ENST00000509732.6:c.3736G>A	ENSP00000426541.2:p.Ala1246Thr
ENST00000512211.7:c.3736G>A	ENSP00000423828.3:p.Ala1246Thr
ENST00000257430.9:c.3736G>A MANE Select	ENSP00000257430.4:p.Ala1246Thr
ENST00000257430.8:c.3736G>A	ENSP00000257430.4:p.Ala1246Thr
ENST00000502371.2:c.2089G>A
ENST00000508376.6:c.3736G>A	ENSP00000427089.2:p.Ala1246Thr
ENST00000508624.5:c.*3058G>A	ENSP00000424265.1:n.*3058G>A
ENST00000512211.6:c.3736G>A	ENSP00000423828.2:p.Ala1246Thr
ENST00000520401.1:c.230+10358G>A
NM_000038.5:c.3736G>A	NP_000029.2:p.Ala1246Thr
NM_001127510.2:c.3736G>A	NP_001120982.1:p.Ala1246Thr
NM_001127511.2:c.3682G>A	NP_001120983.2:p.Ala1228Thr
NM_001354895.1:c.3736G>A	NP_001341824.1:p.Ala1246Thr
NM_001354896.1:c.3790G>A	NP_001341825.1:p.Ala1264Thr
NM_001354897.1:c.3766G>A	NP_001341826.1:p.Ala1256Thr
NM_001354898.1:c.3661G>A	NP_001341827.1:p.Ala1221Thr
NM_001354899.1:c.3652G>A	NP_001341828.1:p.Ala1218Thr
NM_001354900.1:c.3613G>A	NP_001341829.1:p.Ala1205Thr
NM_001354901.1:c.3559G>A	NP_001341830.1:p.Ala1187Thr
NM_001354902.1:c.3463G>A	NP_001341831.1:p.Ala1155Thr
NM_001354903.1:c.3433G>A	NP_001341832.1:p.Ala1145Thr
NM_001354904.1:c.3358G>A	NP_001341833.1:p.Ala1120Thr
NM_001354905.1:c.3256G>A	NP_001341834.1:p.Ala1086Thr
NM_001354906.1:c.2887G>A	NP_001341835.1:p.Ala963Thr
NM_000038.6:c.3736G>A MANE Select	NP_000029.2:p.Ala1246Thr
NM_001127510.3:c.3736G>A	NP_001120982.1:p.Ala1246Thr
NM_001127511.3:c.3682G>A	NP_001120983.2:p.Ala1228Thr
NM_001354895.2:c.3736G>A	NP_001341824.1:p.Ala1246Thr
NM_001354896.2:c.3790G>A	NP_001341825.1:p.Ala1264Thr
NM_001354897.2:c.3766G>A	NP_001341826.1:p.Ala1256Thr
NM_001354898.2:c.3661G>A	NP_001341827.1:p.Ala1221Thr
NM_001354899.2:c.3652G>A	NP_001341828.1:p.Ala1218Thr
NM_001354900.2:c.3613G>A	NP_001341829.1:p.Ala1205Thr
NM_001354901.2:c.3559G>A	NP_001341830.1:p.Ala1187Thr
NM_001354902.2:c.3463G>A	NP_001341831.1:p.Ala1155Thr
NM_001354903.2:c.3433G>A	NP_001341832.1:p.Ala1145Thr
NM_001354904.2:c.3358G>A	NP_001341833.1:p.Ala1120Thr
NM_001354905.2:c.3256G>A	NP_001341834.1:p.Ala1086Thr
NM_001354906.2:c.2887G>A	NP_001341835.1:p.Ala963Thr