Canonical Allele Identifier: CA16036537

Gene: APC

Linked Data

• ClinVar Variation Id: 482344
• ClinVar RCV Id: RCV000565897 ; RCV001253018 ; RCV002512116 ; RCV004000973
• dbSNP Id: rs1554087886
• gnomAD v3: 5-112842568-G-A
• gnomAD v4: 5-112842568-G-A
• MyVariant Identifiers: chr5:g.112178265G>A (hg19) ; chr5:g.112842568G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112842568G>A , CM000667.2:g.112842568G>A	GRCh38
NC_000005.9:g.112178265G>A , CM000667.1:g.112178265G>A	GRCh37
NC_000005.8:g.112206164G>A	NCBI36
NG_008481.4:g.155048G>A , LRG_130:g.155048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7028G>A	ENSP00000473355.2:p.Gly2343Asp
ENST00000505350.2:c.*6980G>A	ENSP00000481752.1:n.*6980G>A
ENST00000507379.6:c.6920G>A	ENSP00000423224.2:p.Gly2307Asp
ENST00000509732.6:c.6974G>A	ENSP00000426541.2:p.Gly2325Asp
ENST00000512211.7:c.6974G>A	ENSP00000423828.3:p.Gly2325Asp
ENST00000257430.9:c.6974G>A MANE Select	ENSP00000257430.4:p.Gly2325Asp
ENST00000257430.8:c.6974G>A	ENSP00000257430.4:p.Gly2325Asp
ENST00000508376.6:c.6974G>A	ENSP00000427089.2:p.Gly2325Asp
ENST00000508624.5:c.*6296G>A	ENSP00000424265.1:n.*6296G>A
ENST00000520401.1:c.230+13596G>A
NM_000038.5:c.6974G>A	NP_000029.2:p.Gly2325Asp
NM_001127510.2:c.6974G>A	NP_001120982.1:p.Gly2325Asp
NM_001127511.2:c.6920G>A	NP_001120983.2:p.Gly2307Asp
NM_001354895.1:c.6974G>A	NP_001341824.1:p.Gly2325Asp
NM_001354896.1:c.7028G>A	NP_001341825.1:p.Gly2343Asp
NM_001354897.1:c.7004G>A	NP_001341826.1:p.Gly2335Asp
NM_001354898.1:c.6899G>A	NP_001341827.1:p.Gly2300Asp
NM_001354899.1:c.6890G>A	NP_001341828.1:p.Gly2297Asp
NM_001354900.1:c.6851G>A	NP_001341829.1:p.Gly2284Asp
NM_001354901.1:c.6797G>A	NP_001341830.1:p.Gly2266Asp
NM_001354902.1:c.6701G>A	NP_001341831.1:p.Gly2234Asp
NM_001354903.1:c.6671G>A	NP_001341832.1:p.Gly2224Asp
NM_001354904.1:c.6596G>A	NP_001341833.1:p.Gly2199Asp
NM_001354905.1:c.6494G>A	NP_001341834.1:p.Gly2165Asp
NM_001354906.1:c.6125G>A	NP_001341835.1:p.Gly2042Asp
NM_000038.6:c.6974G>A MANE Select	NP_000029.2:p.Gly2325Asp
NM_001127510.3:c.6974G>A	NP_001120982.1:p.Gly2325Asp
NM_001127511.3:c.6920G>A	NP_001120983.2:p.Gly2307Asp
NM_001354895.2:c.6974G>A	NP_001341824.1:p.Gly2325Asp
NM_001354896.2:c.7028G>A	NP_001341825.1:p.Gly2343Asp
NM_001354897.2:c.7004G>A	NP_001341826.1:p.Gly2335Asp
NM_001354898.2:c.6899G>A	NP_001341827.1:p.Gly2300Asp
NM_001354899.2:c.6890G>A	NP_001341828.1:p.Gly2297Asp
NM_001354900.2:c.6851G>A	NP_001341829.1:p.Gly2284Asp
NM_001354901.2:c.6797G>A	NP_001341830.1:p.Gly2266Asp
NM_001354902.2:c.6701G>A	NP_001341831.1:p.Gly2234Asp
NM_001354903.2:c.6671G>A	NP_001341832.1:p.Gly2224Asp
NM_001354904.2:c.6596G>A	NP_001341833.1:p.Gly2199Asp
NM_001354905.2:c.6494G>A	NP_001341834.1:p.Gly2165Asp
NM_001354906.2:c.6125G>A	NP_001341835.1:p.Gly2042Asp