Canonical Allele Identifier: CA16025203

Gene: APC

Linked Data

• ClinVar Variation Id: 419994
• ClinVar RCV Id: RCV000478645 ; RCV003743740 ; RCV002526560
• dbSNP Id: rs1064794226
• COSMIC: COSM5025152
• MyVariant Identifiers: chr5:g.112170682G>A (hg19) ; chr5:g.112834985G>A (hg38)
• PubMed: PMID:8990002 ; PMID:17604324

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112834985G>A , CM000667.2:g.112834985G>A	GRCh38
NC_000005.9:g.112170682G>A , CM000667.1:g.112170682G>A	GRCh37
NC_000005.8:g.112198581G>A	NCBI36
NG_008481.4:g.147465G>A , LRG_130:g.147465G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1443G>A	ENSP00000484935.2:p.Met481Ile
ENST00000504915.3:c.1832G>A	ENSP00000473355.2:p.Trp611Ter
ENST00000505350.2:c.*1784G>A	ENSP00000481752.1:n.*1784G>A
ENST00000507379.6:c.1724G>A	ENSP00000423224.2:p.Trp575Ter
ENST00000509732.6:c.1778G>A	ENSP00000426541.2:p.Trp593Ter
ENST00000512211.7:c.1778G>A	ENSP00000423828.3:p.Trp593Ter
ENST00000257430.9:c.1778G>A MANE Select	ENSP00000257430.4:p.Trp593Ter
ENST00000257430.8:c.1778G>A	ENSP00000257430.4:p.Trp593Ter
ENST00000502371.2:c.131G>A
ENST00000504915.2:c.467G>A	ENSP00000473355.1:p.Trp156Ter
ENST00000507379.5:c.1724G>A	ENSP00000423224.1:p.Trp575Ter
ENST00000508376.6:c.1778G>A	ENSP00000427089.2:p.Trp593Ter
ENST00000508624.5:c.*1100G>A	ENSP00000424265.1:n.*1100G>A
ENST00000512211.6:c.1778G>A	ENSP00000423828.2:p.Trp593Ter
ENST00000520401.1:c.230+6013G>A
NM_000038.5:c.1778G>A	NP_000029.2:p.Trp593Ter
NM_001127510.2:c.1778G>A	NP_001120982.1:p.Trp593Ter
NM_001127511.2:c.1724G>A	NP_001120983.2:p.Trp575Ter
NM_001354895.1:c.1778G>A	NP_001341824.1:p.Trp593Ter
NM_001354896.1:c.1832G>A	NP_001341825.1:p.Trp611Ter
NM_001354897.1:c.1808G>A	NP_001341826.1:p.Trp603Ter
NM_001354898.1:c.1703G>A	NP_001341827.1:p.Trp568Ter
NM_001354899.1:c.1694G>A	NP_001341828.1:p.Trp565Ter
NM_001354900.1:c.1655G>A	NP_001341829.1:p.Trp552Ter
NM_001354901.1:c.1601G>A	NP_001341830.1:p.Trp534Ter
NM_001354902.1:c.1505G>A	NP_001341831.1:p.Trp502Ter
NM_001354903.1:c.1475G>A	NP_001341832.1:p.Trp492Ter
NM_001354904.1:c.1400G>A	NP_001341833.1:p.Trp467Ter
NM_001354905.1:c.1298G>A	NP_001341834.1:p.Trp433Ter
NM_001354906.1:c.929G>A	NP_001341835.1:p.Trp310Ter
NM_000038.6:c.1778G>A MANE Select	NP_000029.2:p.Trp593Ter
NM_001127510.3:c.1778G>A	NP_001120982.1:p.Trp593Ter
NM_001127511.3:c.1724G>A	NP_001120983.2:p.Trp575Ter
NM_001354895.2:c.1778G>A	NP_001341824.1:p.Trp593Ter
NM_001354896.2:c.1832G>A	NP_001341825.1:p.Trp611Ter
NM_001354897.2:c.1808G>A	NP_001341826.1:p.Trp603Ter
NM_001354898.2:c.1703G>A	NP_001341827.1:p.Trp568Ter
NM_001354899.2:c.1694G>A	NP_001341828.1:p.Trp565Ter
NM_001354900.2:c.1655G>A	NP_001341829.1:p.Trp552Ter
NM_001354901.2:c.1601G>A	NP_001341830.1:p.Trp534Ter
NM_001354902.2:c.1505G>A	NP_001341831.1:p.Trp502Ter
NM_001354903.2:c.1475G>A	NP_001341832.1:p.Trp492Ter
NM_001354904.2:c.1400G>A	NP_001341833.1:p.Trp467Ter
NM_001354905.2:c.1298G>A	NP_001341834.1:p.Trp433Ter
NM_001354906.2:c.929G>A	NP_001341835.1:p.Trp310Ter