Canonical Allele Identifier: CA16030390

Gene: APC

Linked Data

• ClinVar Variation Id: 376062
• ClinVar RCV Id: RCV000426216 ; RCV001725179 ; RCV003335318
• dbSNP Id: rs121913326
• COSMIC: COSM18834
• MyVariant Identifiers: chr5:g.112175426G>T (hg19) ; chr5:g.112839729G>T (hg38)
• PubMed: PMID:1528264 ; PMID:8187091 ; PMID:22810696 ; PMID:24861525 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839729G>T , CM000667.2:g.112839729G>T	GRCh38
NC_000005.9:g.112175426G>T , CM000667.1:g.112175426G>T	GRCh37
NC_000005.8:g.112203325G>T	NCBI36
NG_008481.4:g.152209G>T , LRG_130:g.152209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3800G>T	ENSP00000484935.2:n.3800G>T
ENST00000504915.3:c.4189G>T	ENSP00000473355.2:p.Glu1397Ter
ENST00000505350.2:c.*4141G>T	ENSP00000481752.1:n.*4141G>T
ENST00000507379.6:c.4081G>T	ENSP00000423224.2:p.Glu1361Ter
ENST00000509732.6:c.4135G>T	ENSP00000426541.2:p.Glu1379Ter
ENST00000512211.7:c.4135G>T	ENSP00000423828.3:p.Glu1379Ter
ENST00000257430.9:c.4135G>T MANE Select	ENSP00000257430.4:p.Glu1379Ter
ENST00000257430.8:c.4135G>T	ENSP00000257430.4:p.Glu1379Ter
ENST00000502371.2:c.2488G>T
ENST00000508376.6:c.4135G>T	ENSP00000427089.2:p.Glu1379Ter
ENST00000508624.5:c.*3457G>T	ENSP00000424265.1:n.*3457G>T
ENST00000520401.1:c.230+10757G>T
NM_000038.5:c.4135G>T	NP_000029.2:p.Glu1379Ter
NM_001127510.2:c.4135G>T	NP_001120982.1:p.Glu1379Ter
NM_001127511.2:c.4081G>T	NP_001120983.2:p.Glu1361Ter
NM_001354895.1:c.4135G>T	NP_001341824.1:p.Glu1379Ter
NM_001354896.1:c.4189G>T	NP_001341825.1:p.Glu1397Ter
NM_001354897.1:c.4165G>T	NP_001341826.1:p.Glu1389Ter
NM_001354898.1:c.4060G>T	NP_001341827.1:p.Glu1354Ter
NM_001354899.1:c.4051G>T	NP_001341828.1:p.Glu1351Ter
NM_001354900.1:c.4012G>T	NP_001341829.1:p.Glu1338Ter
NM_001354901.1:c.3958G>T	NP_001341830.1:p.Glu1320Ter
NM_001354902.1:c.3862G>T	NP_001341831.1:p.Glu1288Ter
NM_001354903.1:c.3832G>T	NP_001341832.1:p.Glu1278Ter
NM_001354904.1:c.3757G>T	NP_001341833.1:p.Glu1253Ter
NM_001354905.1:c.3655G>T	NP_001341834.1:p.Glu1219Ter
NM_001354906.1:c.3286G>T	NP_001341835.1:p.Glu1096Ter
NM_000038.6:c.4135G>T MANE Select	NP_000029.2:p.Glu1379Ter
NM_001127510.3:c.4135G>T	NP_001120982.1:p.Glu1379Ter
NM_001127511.3:c.4081G>T	NP_001120983.2:p.Glu1361Ter
NM_001354895.2:c.4135G>T	NP_001341824.1:p.Glu1379Ter
NM_001354896.2:c.4189G>T	NP_001341825.1:p.Glu1397Ter
NM_001354897.2:c.4165G>T	NP_001341826.1:p.Glu1389Ter
NM_001354898.2:c.4060G>T	NP_001341827.1:p.Glu1354Ter
NM_001354899.2:c.4051G>T	NP_001341828.1:p.Glu1351Ter
NM_001354900.2:c.4012G>T	NP_001341829.1:p.Glu1338Ter
NM_001354901.2:c.3958G>T	NP_001341830.1:p.Glu1320Ter
NM_001354902.2:c.3862G>T	NP_001341831.1:p.Glu1288Ter
NM_001354903.2:c.3832G>T	NP_001341832.1:p.Glu1278Ter
NM_001354904.2:c.3757G>T	NP_001341833.1:p.Glu1253Ter
NM_001354905.2:c.3655G>T	NP_001341834.1:p.Glu1219Ter
NM_001354906.2:c.3286G>T	NP_001341835.1:p.Glu1096Ter