Canonical Allele Identifier: CA16029415

Gene: APC

Linked Data

• ClinVar Variation Id: 433650
• ClinVar RCV Id: RCV000500372 ; RCV002350114 ; RCV003335424
• dbSNP Id: rs1554085227
• COSMIC: COSM201305
• MyVariant Identifiers: chr5:g.112174973C>T (hg19) ; chr5:g.112839276C>T (hg38)
• PubMed: PMID:9101302 ; PMID:20685668

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839276C>T , CM000667.2:g.112839276C>T	GRCh38
NC_000005.9:g.112174973C>T , CM000667.1:g.112174973C>T	GRCh37
NC_000005.8:g.112202872C>T	NCBI36
NG_008481.4:g.151756C>T , LRG_130:g.151756C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3347C>T	ENSP00000484935.2:n.3347C>T
ENST00000504915.3:c.3736C>T	ENSP00000473355.2:p.Gln1246Ter
ENST00000505350.2:c.*3688C>T	ENSP00000481752.1:n.*3688C>T
ENST00000507379.6:c.3628C>T	ENSP00000423224.2:p.Gln1210Ter
ENST00000509732.6:c.3682C>T	ENSP00000426541.2:p.Gln1228Ter
ENST00000512211.7:c.3682C>T	ENSP00000423828.3:p.Gln1228Ter
ENST00000257430.9:c.3682C>T MANE Select	ENSP00000257430.4:p.Gln1228Ter
ENST00000257430.8:c.3682C>T	ENSP00000257430.4:p.Gln1228Ter
ENST00000502371.2:c.2035C>T
ENST00000508376.6:c.3682C>T	ENSP00000427089.2:p.Gln1228Ter
ENST00000508624.5:c.*3004C>T	ENSP00000424265.1:n.*3004C>T
ENST00000512211.6:c.3682C>T	ENSP00000423828.2:p.Gln1228Ter
ENST00000520401.1:c.230+10304C>T
NM_000038.5:c.3682C>T	NP_000029.2:p.Gln1228Ter
NM_001127510.2:c.3682C>T	NP_001120982.1:p.Gln1228Ter
NM_001127511.2:c.3628C>T	NP_001120983.2:p.Gln1210Ter
NM_001354895.1:c.3682C>T	NP_001341824.1:p.Gln1228Ter
NM_001354896.1:c.3736C>T	NP_001341825.1:p.Gln1246Ter
NM_001354897.1:c.3712C>T	NP_001341826.1:p.Gln1238Ter
NM_001354898.1:c.3607C>T	NP_001341827.1:p.Gln1203Ter
NM_001354899.1:c.3598C>T	NP_001341828.1:p.Gln1200Ter
NM_001354900.1:c.3559C>T	NP_001341829.1:p.Gln1187Ter
NM_001354901.1:c.3505C>T	NP_001341830.1:p.Gln1169Ter
NM_001354902.1:c.3409C>T	NP_001341831.1:p.Gln1137Ter
NM_001354903.1:c.3379C>T	NP_001341832.1:p.Gln1127Ter
NM_001354904.1:c.3304C>T	NP_001341833.1:p.Gln1102Ter
NM_001354905.1:c.3202C>T	NP_001341834.1:p.Gln1068Ter
NM_001354906.1:c.2833C>T	NP_001341835.1:p.Gln945Ter
NM_000038.6:c.3682C>T MANE Select	NP_000029.2:p.Gln1228Ter
NM_001127510.3:c.3682C>T	NP_001120982.1:p.Gln1228Ter
NM_001127511.3:c.3628C>T	NP_001120983.2:p.Gln1210Ter
NM_001354895.2:c.3682C>T	NP_001341824.1:p.Gln1228Ter
NM_001354896.2:c.3736C>T	NP_001341825.1:p.Gln1246Ter
NM_001354897.2:c.3712C>T	NP_001341826.1:p.Gln1238Ter
NM_001354898.2:c.3607C>T	NP_001341827.1:p.Gln1203Ter
NM_001354899.2:c.3598C>T	NP_001341828.1:p.Gln1200Ter
NM_001354900.2:c.3559C>T	NP_001341829.1:p.Gln1187Ter
NM_001354901.2:c.3505C>T	NP_001341830.1:p.Gln1169Ter
NM_001354902.2:c.3409C>T	NP_001341831.1:p.Gln1137Ter
NM_001354903.2:c.3379C>T	NP_001341832.1:p.Gln1127Ter
NM_001354904.2:c.3304C>T	NP_001341833.1:p.Gln1102Ter
NM_001354905.2:c.3202C>T	NP_001341834.1:p.Gln1068Ter
NM_001354906.2:c.2833C>T	NP_001341835.1:p.Gln945Ter