Canonical Allele Identifier: CA16028737

Gene: APC

Linked Data

• ClinVar Variation Id: 856907
• ClinVar RCV Id: RCV002451265 ; RCV003336302
• dbSNP Id: rs1765409926
• COSMIC: COSM4169286
• MyVariant Identifiers: chr5:g.112174670C>T (hg19) ; chr5:g.112838973C>T (hg38)
• PubMed: PMID:17486639

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838973C>T , CM000667.2:g.112838973C>T	GRCh38
NC_000005.9:g.112174670C>T , CM000667.1:g.112174670C>T	GRCh37
NC_000005.8:g.112202569C>T	NCBI36
NG_008481.4:g.151453C>T , LRG_130:g.151453C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3044C>T	ENSP00000484935.2:n.3044C>T
ENST00000504915.3:c.3433C>T	ENSP00000473355.2:p.Gln1145Ter
ENST00000505350.2:c.*3385C>T	ENSP00000481752.1:n.*3385C>T
ENST00000507379.6:c.3325C>T	ENSP00000423224.2:p.Gln1109Ter
ENST00000509732.6:c.3379C>T	ENSP00000426541.2:p.Gln1127Ter
ENST00000512211.7:c.3379C>T	ENSP00000423828.3:p.Gln1127Ter
ENST00000257430.9:c.3379C>T MANE Select	ENSP00000257430.4:p.Gln1127Ter
ENST00000257430.8:c.3379C>T	ENSP00000257430.4:p.Gln1127Ter
ENST00000502371.2:c.1732C>T
ENST00000507379.5:c.3325C>T	ENSP00000423224.1:p.Gln1109Ter
ENST00000508376.6:c.3379C>T	ENSP00000427089.2:p.Gln1127Ter
ENST00000508624.5:c.*2701C>T	ENSP00000424265.1:n.*2701C>T
ENST00000512211.6:c.3379C>T	ENSP00000423828.2:p.Gln1127Ter
ENST00000520401.1:c.230+10001C>T
NM_000038.5:c.3379C>T	NP_000029.2:p.Gln1127Ter
NM_001127510.2:c.3379C>T	NP_001120982.1:p.Gln1127Ter
NM_001127511.2:c.3325C>T	NP_001120983.2:p.Gln1109Ter
NM_001354895.1:c.3379C>T	NP_001341824.1:p.Gln1127Ter
NM_001354896.1:c.3433C>T	NP_001341825.1:p.Gln1145Ter
NM_001354897.1:c.3409C>T	NP_001341826.1:p.Gln1137Ter
NM_001354898.1:c.3304C>T	NP_001341827.1:p.Gln1102Ter
NM_001354899.1:c.3295C>T	NP_001341828.1:p.Gln1099Ter
NM_001354900.1:c.3256C>T	NP_001341829.1:p.Gln1086Ter
NM_001354901.1:c.3202C>T	NP_001341830.1:p.Gln1068Ter
NM_001354902.1:c.3106C>T	NP_001341831.1:p.Gln1036Ter
NM_001354903.1:c.3076C>T	NP_001341832.1:p.Gln1026Ter
NM_001354904.1:c.3001C>T	NP_001341833.1:p.Gln1001Ter
NM_001354905.1:c.2899C>T	NP_001341834.1:p.Gln967Ter
NM_001354906.1:c.2530C>T	NP_001341835.1:p.Gln844Ter
NM_000038.6:c.3379C>T MANE Select	NP_000029.2:p.Gln1127Ter
NM_001127510.3:c.3379C>T	NP_001120982.1:p.Gln1127Ter
NM_001127511.3:c.3325C>T	NP_001120983.2:p.Gln1109Ter
NM_001354895.2:c.3379C>T	NP_001341824.1:p.Gln1127Ter
NM_001354896.2:c.3433C>T	NP_001341825.1:p.Gln1145Ter
NM_001354897.2:c.3409C>T	NP_001341826.1:p.Gln1137Ter
NM_001354898.2:c.3304C>T	NP_001341827.1:p.Gln1102Ter
NM_001354899.2:c.3295C>T	NP_001341828.1:p.Gln1099Ter
NM_001354900.2:c.3256C>T	NP_001341829.1:p.Gln1086Ter
NM_001354901.2:c.3202C>T	NP_001341830.1:p.Gln1068Ter
NM_001354902.2:c.3106C>T	NP_001341831.1:p.Gln1036Ter
NM_001354903.2:c.3076C>T	NP_001341832.1:p.Gln1026Ter
NM_001354904.2:c.3001C>T	NP_001341833.1:p.Gln1001Ter
NM_001354905.2:c.2899C>T	NP_001341834.1:p.Gln967Ter
NM_001354906.2:c.2530C>T	NP_001341835.1:p.Gln844Ter