Canonical Allele Identifier: CA16039019

Gene: APC

Linked Data

• ClinVar Variation Id: 1406750
• ClinVar RCV Id: RCV003320260 ; RCV003653516
• dbSNP Id: rs1766663996
• gnomAD v4: 5-112843741-T-A
• MyVariant Identifiers: chr5:g.112179438T>A (hg19) ; chr5:g.112843741T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843741T>A , CM000667.2:g.112843741T>A	GRCh38
NC_000005.9:g.112179438T>A , CM000667.1:g.112179438T>A	GRCh37
NC_000005.8:g.112207337T>A	NCBI36
NG_008481.4:g.156221T>A , LRG_130:g.156221T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000504915.3:c.8201T>A	ENSP00000473355.2:p.Val2734Glu
ENST00000505350.2:c.*8153T>A	ENSP00000481752.1:n.*8153T>A
ENST00000507379.6:c.8093T>A	ENSP00000423224.2:p.Val2698Glu
ENST00000509732.6:c.8147T>A	ENSP00000426541.2:p.Val2716Glu
ENST00000512211.7:c.8147T>A	ENSP00000423828.3:p.Val2716Glu
ENST00000257430.9:c.8147T>A MANE Select	ENSP00000257430.4:p.Val2716Glu
ENST00000257430.8:c.8147T>A	ENSP00000257430.4:p.Val2716Glu
ENST00000508376.6:c.8147T>A	ENSP00000427089.2:p.Val2716Glu
ENST00000520401.1:c.231-12908T>A
NM_000038.5:c.8147T>A	NP_000029.2:p.Val2716Glu
NM_001127510.2:c.8147T>A	NP_001120982.1:p.Val2716Glu
NM_001127511.2:c.8093T>A	NP_001120983.2:p.Val2698Glu
NM_001354895.1:c.8147T>A	NP_001341824.1:p.Val2716Glu
NM_001354896.1:c.8201T>A	NP_001341825.1:p.Val2734Glu
NM_001354897.1:c.8177T>A	NP_001341826.1:p.Val2726Glu
NM_001354898.1:c.8072T>A	NP_001341827.1:p.Val2691Glu
NM_001354899.1:c.8063T>A	NP_001341828.1:p.Val2688Glu
NM_001354900.1:c.8024T>A	NP_001341829.1:p.Val2675Glu
NM_001354901.1:c.7970T>A	NP_001341830.1:p.Val2657Glu
NM_001354902.1:c.7874T>A	NP_001341831.1:p.Val2625Glu
NM_001354903.1:c.7844T>A	NP_001341832.1:p.Val2615Glu
NM_001354904.1:c.7769T>A	NP_001341833.1:p.Val2590Glu
NM_001354905.1:c.7667T>A	NP_001341834.1:p.Val2556Glu
NM_001354906.1:c.7298T>A	NP_001341835.1:p.Val2433Glu
NM_000038.6:c.8147T>A MANE Select	NP_000029.2:p.Val2716Glu
NM_001127510.3:c.8147T>A	NP_001120982.1:p.Val2716Glu
NM_001127511.3:c.8093T>A	NP_001120983.2:p.Val2698Glu
NM_001354895.2:c.8147T>A	NP_001341824.1:p.Val2716Glu
NM_001354896.2:c.8201T>A	NP_001341825.1:p.Val2734Glu
NM_001354897.2:c.8177T>A	NP_001341826.1:p.Val2726Glu
NM_001354898.2:c.8072T>A	NP_001341827.1:p.Val2691Glu
NM_001354899.2:c.8063T>A	NP_001341828.1:p.Val2688Glu
NM_001354900.2:c.8024T>A	NP_001341829.1:p.Val2675Glu
NM_001354901.2:c.7970T>A	NP_001341830.1:p.Val2657Glu
NM_001354902.2:c.7874T>A	NP_001341831.1:p.Val2625Glu
NM_001354903.2:c.7844T>A	NP_001341832.1:p.Val2615Glu
NM_001354904.2:c.7769T>A	NP_001341833.1:p.Val2590Glu
NM_001354905.2:c.7667T>A	NP_001341834.1:p.Val2556Glu
NM_001354906.2:c.7298T>A	NP_001341835.1:p.Val2433Glu