Canonical Allele Identifier: CA124951907

Gene: APC

Linked Data

• ClinVar Variation Id: 1319316
• ClinVar RCV Id: RCV003238615 ; RCV003941126 ; RCV003315263
• dbSNP Id: rs751998391
• gnomAD v2: 5-112073580-T-A
• gnomAD v3: 5-112737883-T-A
• gnomAD v4: 5-112737883-T-A
• MyVariant Identifiers: chr5:g.112073580T>A (hg19) ; chr5:g.112737883T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112737883T>A , CM000667.2:g.112737883T>A	GRCh38
NC_000005.9:g.112073580T>A , CM000667.1:g.112073580T>A	GRCh37
NC_000005.8:g.112101479T>A	NCBI36
NG_008481.4:g.50363T>A , LRG_130:g.50363T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.166-16990T>A	ENSP00000481752.1:n.166-16990T>A
ENST00000507379.6:c.166-28443T>A	ENSP00000423224.2:n.166-28443T>A
ENST00000509732.6:c.-18-16990T>A	ENSP00000426541.2:n.-18-16990T>A
ENST00000505350.1:c.166-16990T>A	ENSP00000481752.1:n.166-16990T>A
ENST00000507379.5:c.166-28443T>A	ENSP00000423224.1:n.166-28443T>A
ENST00000509732.5:c.-18-16990T>A	ENSP00000426541.1:n.-18-16990T>A
NM_000038.5:c.-61T>A	NP_000029.2:n.-61T>A
NM_001127510.2:c.-169T>A	NP_001120982.1:n.-169T>A
NM_001127511.2:c.166-28443T>A	NP_001120983.2:n.166-28443T>A
NM_001354895.1:c.-18-16990T>A	NP_001341824.1:n.-18-16990T>A
NM_001354896.1:c.-61T>A	NP_001341825.1:n.-61T>A
NM_001354897.1:c.166-28443T>A	NP_001341826.1:n.166-28443T>A
NM_001354898.1:c.-91T>A	NP_001341827.1:n.-91T>A
NM_001354899.1:c.-61T>A	NP_001341828.1:n.-61T>A
NM_001354900.1:c.-85T>A	NP_001341829.1:n.-85T>A
NM_001354901.1:c.-85T>A	NP_001341830.1:n.-85T>A
NM_001354902.1:c.166-28443T>A	NP_001341831.1:n.166-28443T>A
NM_001354903.1:c.-61T>A	NP_001341832.1:n.-61T>A
NM_001354904.1:c.-91T>A	NP_001341833.1:n.-91T>A
NM_001354905.1:c.-85T>A	NP_001341834.1:n.-85T>A
NM_001354906.1:c.-1096T>A	NP_001341835.1:n.-1096T>A
NM_001127511.3:c.166-28443T>A	NP_001120983.2:n.166-28443T>A
NM_001354895.2:c.-18-16990T>A	NP_001341824.1:n.-18-16990T>A
NM_001354897.2:c.166-28443T>A	NP_001341826.1:n.166-28443T>A
NM_001354902.2:c.166-28443T>A	NP_001341831.1:n.166-28443T>A