Canonical Allele Identifier: CA16038674

Gene: APC

Linked Data

• ClinVar Variation Id: 1932430
• ClinVar RCV Id: RCV002605780
• dbSNP Id: rs2149997418
• gnomAD v4: 5-112843579-A-T
• MyVariant Identifiers: chr5:g.112179276A>T (hg19) ; chr5:g.112843579A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843579A>T , CM000667.2:g.112843579A>T	GRCh38
NC_000005.9:g.112179276A>T , CM000667.1:g.112179276A>T	GRCh37
NC_000005.8:g.112207175A>T	NCBI36
NG_008481.4:g.156059A>T , LRG_130:g.156059A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.8039A>T	ENSP00000473355.2:p.Glu2680Val
ENST00000505350.2:c.*7991A>T	ENSP00000481752.1:n.*7991A>T
ENST00000507379.6:c.7931A>T	ENSP00000423224.2:p.Glu2644Val
ENST00000509732.6:c.7985A>T	ENSP00000426541.2:p.Glu2662Val
ENST00000512211.7:c.7985A>T	ENSP00000423828.3:p.Glu2662Val
ENST00000257430.9:c.7985A>T MANE Select	ENSP00000257430.4:p.Glu2662Val
ENST00000257430.8:c.7985A>T	ENSP00000257430.4:p.Glu2662Val
ENST00000508376.6:c.7985A>T	ENSP00000427089.2:p.Glu2662Val
ENST00000520401.1:c.231-13070A>T
NM_000038.5:c.7985A>T	NP_000029.2:p.Glu2662Val
NM_001127510.2:c.7985A>T	NP_001120982.1:p.Glu2662Val
NM_001127511.2:c.7931A>T	NP_001120983.2:p.Glu2644Val
NM_001354895.1:c.7985A>T	NP_001341824.1:p.Glu2662Val
NM_001354896.1:c.8039A>T	NP_001341825.1:p.Glu2680Val
NM_001354897.1:c.8015A>T	NP_001341826.1:p.Glu2672Val
NM_001354898.1:c.7910A>T	NP_001341827.1:p.Glu2637Val
NM_001354899.1:c.7901A>T	NP_001341828.1:p.Glu2634Val
NM_001354900.1:c.7862A>T	NP_001341829.1:p.Glu2621Val
NM_001354901.1:c.7808A>T	NP_001341830.1:p.Glu2603Val
NM_001354902.1:c.7712A>T	NP_001341831.1:p.Glu2571Val
NM_001354903.1:c.7682A>T	NP_001341832.1:p.Glu2561Val
NM_001354904.1:c.7607A>T	NP_001341833.1:p.Glu2536Val
NM_001354905.1:c.7505A>T	NP_001341834.1:p.Glu2502Val
NM_001354906.1:c.7136A>T	NP_001341835.1:p.Glu2379Val
NM_000038.6:c.7985A>T MANE Select	NP_000029.2:p.Glu2662Val
NM_001127510.3:c.7985A>T	NP_001120982.1:p.Glu2662Val
NM_001127511.3:c.7931A>T	NP_001120983.2:p.Glu2644Val
NM_001354895.2:c.7985A>T	NP_001341824.1:p.Glu2662Val
NM_001354896.2:c.8039A>T	NP_001341825.1:p.Glu2680Val
NM_001354897.2:c.8015A>T	NP_001341826.1:p.Glu2672Val
NM_001354898.2:c.7910A>T	NP_001341827.1:p.Glu2637Val
NM_001354899.2:c.7901A>T	NP_001341828.1:p.Glu2634Val
NM_001354900.2:c.7862A>T	NP_001341829.1:p.Glu2621Val
NM_001354901.2:c.7808A>T	NP_001341830.1:p.Glu2603Val
NM_001354902.2:c.7712A>T	NP_001341831.1:p.Glu2571Val
NM_001354903.2:c.7682A>T	NP_001341832.1:p.Glu2561Val
NM_001354904.2:c.7607A>T	NP_001341833.1:p.Glu2536Val
NM_001354905.2:c.7505A>T	NP_001341834.1:p.Glu2502Val
NM_001354906.2:c.7136A>T	NP_001341835.1:p.Glu2379Val