Canonical Allele Identifier: CA16032388

Gene: APC

Linked Data

• ClinVar Variation Id: 825407
• ClinVar RCV Id: RCV001023483 ; RCV003649222
• dbSNP Id: rs1365746402
• gnomAD v3: 5-112840649-A-T
• gnomAD v4: 5-112840649-A-T
• MyVariant Identifiers: chr5:g.112176346A>T (hg19) ; chr5:g.112840649A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840649A>T , CM000667.2:g.112840649A>T	GRCh38
NC_000005.9:g.112176346A>T , CM000667.1:g.112176346A>T	GRCh37
NC_000005.8:g.112204245A>T	NCBI36
NG_008481.4:g.153129A>T , LRG_130:g.153129A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5109A>T	ENSP00000473355.2:p.Glu1703Asp
ENST00000505350.2:c.*5061A>T	ENSP00000481752.1:n.*5061A>T
ENST00000507379.6:c.5001A>T	ENSP00000423224.2:p.Glu1667Asp
ENST00000509732.6:c.5055A>T	ENSP00000426541.2:p.Glu1685Asp
ENST00000512211.7:c.5055A>T	ENSP00000423828.3:p.Glu1685Asp
ENST00000257430.9:c.5055A>T MANE Select	ENSP00000257430.4:p.Glu1685Asp
ENST00000257430.8:c.5055A>T	ENSP00000257430.4:p.Glu1685Asp
ENST00000508376.6:c.5055A>T	ENSP00000427089.2:p.Glu1685Asp
ENST00000508624.5:c.*4377A>T	ENSP00000424265.1:n.*4377A>T
ENST00000520401.1:c.230+11677A>T
NM_000038.5:c.5055A>T	NP_000029.2:p.Glu1685Asp
NM_001127510.2:c.5055A>T	NP_001120982.1:p.Glu1685Asp
NM_001127511.2:c.5001A>T	NP_001120983.2:p.Glu1667Asp
NM_001354895.1:c.5055A>T	NP_001341824.1:p.Glu1685Asp
NM_001354896.1:c.5109A>T	NP_001341825.1:p.Glu1703Asp
NM_001354897.1:c.5085A>T	NP_001341826.1:p.Glu1695Asp
NM_001354898.1:c.4980A>T	NP_001341827.1:p.Glu1660Asp
NM_001354899.1:c.4971A>T	NP_001341828.1:p.Glu1657Asp
NM_001354900.1:c.4932A>T	NP_001341829.1:p.Glu1644Asp
NM_001354901.1:c.4878A>T	NP_001341830.1:p.Glu1626Asp
NM_001354902.1:c.4782A>T	NP_001341831.1:p.Glu1594Asp
NM_001354903.1:c.4752A>T	NP_001341832.1:p.Glu1584Asp
NM_001354904.1:c.4677A>T	NP_001341833.1:p.Glu1559Asp
NM_001354905.1:c.4575A>T	NP_001341834.1:p.Glu1525Asp
NM_001354906.1:c.4206A>T	NP_001341835.1:p.Glu1402Asp
NM_000038.6:c.5055A>T MANE Select	NP_000029.2:p.Glu1685Asp
NM_001127510.3:c.5055A>T	NP_001120982.1:p.Glu1685Asp
NM_001127511.3:c.5001A>T	NP_001120983.2:p.Glu1667Asp
NM_001354895.2:c.5055A>T	NP_001341824.1:p.Glu1685Asp
NM_001354896.2:c.5109A>T	NP_001341825.1:p.Glu1703Asp
NM_001354897.2:c.5085A>T	NP_001341826.1:p.Glu1695Asp
NM_001354898.2:c.4980A>T	NP_001341827.1:p.Glu1660Asp
NM_001354899.2:c.4971A>T	NP_001341828.1:p.Glu1657Asp
NM_001354900.2:c.4932A>T	NP_001341829.1:p.Glu1644Asp
NM_001354901.2:c.4878A>T	NP_001341830.1:p.Glu1626Asp
NM_001354902.2:c.4782A>T	NP_001341831.1:p.Glu1594Asp
NM_001354903.2:c.4752A>T	NP_001341832.1:p.Glu1584Asp
NM_001354904.2:c.4677A>T	NP_001341833.1:p.Glu1559Asp
NM_001354905.2:c.4575A>T	NP_001341834.1:p.Glu1525Asp
NM_001354906.2:c.4206A>T	NP_001341835.1:p.Glu1402Asp