Canonical Allele Identifier: CA16030382

Gene: APC

Linked Data

• ClinVar Variation Id: 376061
• ClinVar RCV Id: RCV000443420 ; RCV001021924
• dbSNP Id: rs121913329
• COSMIC: COSM18862
• MyVariant Identifiers: chr5:g.112175423C>T (hg19) ; chr5:g.112839726C>T (hg38)
• PubMed: PMID:8187091 ; PMID:17704924 ; PMID:18992635 ; PMID:20223039 ; PMID:20685668 ; PMID:23700467 ; PMID:25157968

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112839726C>T , CM000667.2:g.112839726C>T	GRCh38
NC_000005.9:g.112175423C>T , CM000667.1:g.112175423C>T	GRCh37
NC_000005.8:g.112203322C>T	NCBI36
NG_008481.4:g.152206C>T , LRG_130:g.152206C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.3797C>T	ENSP00000484935.2:n.3797C>T
ENST00000504915.3:c.4186C>T	ENSP00000473355.2:p.Gln1396Ter
ENST00000505350.2:c.*4138C>T	ENSP00000481752.1:n.*4138C>T
ENST00000507379.6:c.4078C>T	ENSP00000423224.2:p.Gln1360Ter
ENST00000509732.6:c.4132C>T	ENSP00000426541.2:p.Gln1378Ter
ENST00000512211.7:c.4132C>T	ENSP00000423828.3:p.Gln1378Ter
ENST00000257430.9:c.4132C>T MANE Select	ENSP00000257430.4:p.Gln1378Ter
ENST00000257430.8:c.4132C>T	ENSP00000257430.4:p.Gln1378Ter
ENST00000502371.2:c.2485C>T
ENST00000508376.6:c.4132C>T	ENSP00000427089.2:p.Gln1378Ter
ENST00000508624.5:c.*3454C>T	ENSP00000424265.1:n.*3454C>T
ENST00000520401.1:c.230+10754C>T
NM_000038.5:c.4132C>T	NP_000029.2:p.Gln1378Ter
NM_001127510.2:c.4132C>T	NP_001120982.1:p.Gln1378Ter
NM_001127511.2:c.4078C>T	NP_001120983.2:p.Gln1360Ter
NM_001354895.1:c.4132C>T	NP_001341824.1:p.Gln1378Ter
NM_001354896.1:c.4186C>T	NP_001341825.1:p.Gln1396Ter
NM_001354897.1:c.4162C>T	NP_001341826.1:p.Gln1388Ter
NM_001354898.1:c.4057C>T	NP_001341827.1:p.Gln1353Ter
NM_001354899.1:c.4048C>T	NP_001341828.1:p.Gln1350Ter
NM_001354900.1:c.4009C>T	NP_001341829.1:p.Gln1337Ter
NM_001354901.1:c.3955C>T	NP_001341830.1:p.Gln1319Ter
NM_001354902.1:c.3859C>T	NP_001341831.1:p.Gln1287Ter
NM_001354903.1:c.3829C>T	NP_001341832.1:p.Gln1277Ter
NM_001354904.1:c.3754C>T	NP_001341833.1:p.Gln1252Ter
NM_001354905.1:c.3652C>T	NP_001341834.1:p.Gln1218Ter
NM_001354906.1:c.3283C>T	NP_001341835.1:p.Gln1095Ter
NM_000038.6:c.4132C>T MANE Select	NP_000029.2:p.Gln1378Ter
NM_001127510.3:c.4132C>T	NP_001120982.1:p.Gln1378Ter
NM_001127511.3:c.4078C>T	NP_001120983.2:p.Gln1360Ter
NM_001354895.2:c.4132C>T	NP_001341824.1:p.Gln1378Ter
NM_001354896.2:c.4186C>T	NP_001341825.1:p.Gln1396Ter
NM_001354897.2:c.4162C>T	NP_001341826.1:p.Gln1388Ter
NM_001354898.2:c.4057C>T	NP_001341827.1:p.Gln1353Ter
NM_001354899.2:c.4048C>T	NP_001341828.1:p.Gln1350Ter
NM_001354900.2:c.4009C>T	NP_001341829.1:p.Gln1337Ter
NM_001354901.2:c.3955C>T	NP_001341830.1:p.Gln1319Ter
NM_001354902.2:c.3859C>T	NP_001341831.1:p.Gln1287Ter
NM_001354903.2:c.3829C>T	NP_001341832.1:p.Gln1277Ter
NM_001354904.2:c.3754C>T	NP_001341833.1:p.Gln1252Ter
NM_001354905.2:c.3652C>T	NP_001341834.1:p.Gln1218Ter
NM_001354906.2:c.3283C>T	NP_001341835.1:p.Gln1095Ter