Canonical Allele Identifier: CA004874

Gene: APC

Linked Data

• ClinVar Variation Id: 187417
• ClinVar RCV Id: RCV000167142 ; RCV003650434
• dbSNP Id: rs786203718
• gnomAD v4: 5-112821961-G-A
• MyVariant Identifiers: chr5:g.112157658G>A (hg19) ; chr5:g.112821961G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112821961G>A , CM000667.2:g.112821961G>A	GRCh38
NC_000005.9:g.112157658G>A , CM000667.1:g.112157658G>A	GRCh37
NC_000005.8:g.112185557G>A	NCBI36
NG_008481.4:g.134441G>A , LRG_130:g.134441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.1378G>A	ENSP00000484935.2:p.Glu460Lys
ENST00000504915.3:c.1378G>A	ENSP00000473355.2:p.Glu460Lys
ENST00000505084.2:n.1434G>A
ENST00000505350.2:c.*1384G>A	ENSP00000481752.1:n.*1384G>A
ENST00000507379.6:c.1324G>A	ENSP00000423224.2:p.Glu442Lys
ENST00000509732.6:c.1378G>A	ENSP00000426541.2:p.Glu460Lys
ENST00000512211.7:c.1378G>A	ENSP00000423828.3:p.Glu460Lys
ENST00000257430.9:c.1378G>A MANE Select	ENSP00000257430.4:p.Glu460Lys
ENST00000257430.8:c.1378G>A	ENSP00000257430.4:p.Glu460Lys
ENST00000502371.2:c.66G>A
ENST00000504915.2:c.13G>A	ENSP00000473355.1:p.Glu5Lys
ENST00000507379.5:c.1324G>A	ENSP00000423224.1:p.Glu442Lys
ENST00000508376.6:c.1378G>A	ENSP00000427089.2:p.Glu460Lys
ENST00000508624.5:c.*700G>A	ENSP00000424265.1:n.*700G>A
ENST00000512211.6:c.1378G>A	ENSP00000423828.2:p.Glu460Lys
NM_000038.5:c.1378G>A	NP_000029.2:p.Glu460Lys
NM_001127510.2:c.1378G>A	NP_001120982.1:p.Glu460Lys
NM_001127511.2:c.1324G>A	NP_001120983.2:p.Glu442Lys
NM_001354895.1:c.1378G>A	NP_001341824.1:p.Glu460Lys
NM_001354896.1:c.1378G>A	NP_001341825.1:p.Glu460Lys
NM_001354897.1:c.1408G>A	NP_001341826.1:p.Glu470Lys
NM_001354898.1:c.1303G>A	NP_001341827.1:p.Glu435Lys
NM_001354899.1:c.1294G>A	NP_001341828.1:p.Glu432Lys
NM_001354900.1:c.1201G>A	NP_001341829.1:p.Glu401Lys
NM_001354901.1:c.1201G>A	NP_001341830.1:p.Glu401Lys
NM_001354902.1:c.1105G>A	NP_001341831.1:p.Glu369Lys
NM_001354903.1:c.1075G>A	NP_001341832.1:p.Glu359Lys
NM_001354904.1:c.1000G>A	NP_001341833.1:p.Glu334Lys
NM_001354905.1:c.898G>A	NP_001341834.1:p.Glu300Lys
NM_001354906.1:c.529G>A	NP_001341835.1:p.Glu177Lys
NM_000038.6:c.1378G>A MANE Select	NP_000029.2:p.Glu460Lys
NM_001127510.3:c.1378G>A	NP_001120982.1:p.Glu460Lys
NM_001127511.3:c.1324G>A	NP_001120983.2:p.Glu442Lys
NM_001354895.2:c.1378G>A	NP_001341824.1:p.Glu460Lys
NM_001354896.2:c.1378G>A	NP_001341825.1:p.Glu460Lys
NM_001354897.2:c.1408G>A	NP_001341826.1:p.Glu470Lys
NM_001354898.2:c.1303G>A	NP_001341827.1:p.Glu435Lys
NM_001354899.2:c.1294G>A	NP_001341828.1:p.Glu432Lys
NM_001354900.2:c.1201G>A	NP_001341829.1:p.Glu401Lys
NM_001354901.2:c.1201G>A	NP_001341830.1:p.Glu401Lys
NM_001354902.2:c.1105G>A	NP_001341831.1:p.Glu369Lys
NM_001354903.2:c.1075G>A	NP_001341832.1:p.Glu359Lys
NM_001354904.2:c.1000G>A	NP_001341833.1:p.Glu334Lys
NM_001354905.2:c.898G>A	NP_001341834.1:p.Glu300Lys
NM_001354906.2:c.529G>A	NP_001341835.1:p.Glu177Lys