Canonical Allele Identifier: CA16038315

Gene: APC

Linked Data

• ClinVar Variation Id: 2755712
• ClinVar RCV Id: RCV003536843
• MyVariant Identifiers: chr5:g.112179108T>A (hg19) ; chr5:g.112843411T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843411T>A , CM000667.2:g.112843411T>A	GRCh38
NC_000005.9:g.112179108T>A , CM000667.1:g.112179108T>A	GRCh37
NC_000005.8:g.112207007T>A	NCBI36
NG_008481.4:g.155891T>A , LRG_130:g.155891T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7871T>A	ENSP00000473355.2:p.Val2624Glu
ENST00000505350.2:c.*7823T>A	ENSP00000481752.1:n.*7823T>A
ENST00000507379.6:c.7763T>A	ENSP00000423224.2:p.Val2588Glu
ENST00000509732.6:c.7817T>A	ENSP00000426541.2:p.Val2606Glu
ENST00000512211.7:c.7817T>A	ENSP00000423828.3:p.Val2606Glu
ENST00000257430.9:c.7817T>A MANE Select	ENSP00000257430.4:p.Val2606Glu
ENST00000257430.8:c.7817T>A	ENSP00000257430.4:p.Val2606Glu
ENST00000508376.6:c.7817T>A	ENSP00000427089.2:p.Val2606Glu
ENST00000520401.1:c.231-13238T>A
NM_000038.5:c.7817T>A	NP_000029.2:p.Val2606Glu
NM_001127510.2:c.7817T>A	NP_001120982.1:p.Val2606Glu
NM_001127511.2:c.7763T>A	NP_001120983.2:p.Val2588Glu
NM_001354895.1:c.7817T>A	NP_001341824.1:p.Val2606Glu
NM_001354896.1:c.7871T>A	NP_001341825.1:p.Val2624Glu
NM_001354897.1:c.7847T>A	NP_001341826.1:p.Val2616Glu
NM_001354898.1:c.7742T>A	NP_001341827.1:p.Val2581Glu
NM_001354899.1:c.7733T>A	NP_001341828.1:p.Val2578Glu
NM_001354900.1:c.7694T>A	NP_001341829.1:p.Val2565Glu
NM_001354901.1:c.7640T>A	NP_001341830.1:p.Val2547Glu
NM_001354902.1:c.7544T>A	NP_001341831.1:p.Val2515Glu
NM_001354903.1:c.7514T>A	NP_001341832.1:p.Val2505Glu
NM_001354904.1:c.7439T>A	NP_001341833.1:p.Val2480Glu
NM_001354905.1:c.7337T>A	NP_001341834.1:p.Val2446Glu
NM_001354906.1:c.6968T>A	NP_001341835.1:p.Val2323Glu
NM_000038.6:c.7817T>A MANE Select	NP_000029.2:p.Val2606Glu
NM_001127510.3:c.7817T>A	NP_001120982.1:p.Val2606Glu
NM_001127511.3:c.7763T>A	NP_001120983.2:p.Val2588Glu
NM_001354895.2:c.7817T>A	NP_001341824.1:p.Val2606Glu
NM_001354896.2:c.7871T>A	NP_001341825.1:p.Val2624Glu
NM_001354897.2:c.7847T>A	NP_001341826.1:p.Val2616Glu
NM_001354898.2:c.7742T>A	NP_001341827.1:p.Val2581Glu
NM_001354899.2:c.7733T>A	NP_001341828.1:p.Val2578Glu
NM_001354900.2:c.7694T>A	NP_001341829.1:p.Val2565Glu
NM_001354901.2:c.7640T>A	NP_001341830.1:p.Val2547Glu
NM_001354902.2:c.7544T>A	NP_001341831.1:p.Val2515Glu
NM_001354903.2:c.7514T>A	NP_001341832.1:p.Val2505Glu
NM_001354904.2:c.7439T>A	NP_001341833.1:p.Val2480Glu
NM_001354905.2:c.7337T>A	NP_001341834.1:p.Val2446Glu
NM_001354906.2:c.6968T>A	NP_001341835.1:p.Val2323Glu