Canonical Allele Identifier: CA360618290

Gene: APC

Linked Data

• ClinVar Variation Id: 439408
• ClinVar RCV Id: RCV000507726 ; RCV002413392 ; RCV003535804 ; RCV001356878
• dbSNP Id: rs1554076225
• gnomAD v4: 5-112801384-G-A
• COSMIC: COSM4167230
• MyVariant Identifiers: chr5:g.112137081G>A (hg19) ; chr5:g.112801384G>A (hg38)
• PubMed: PMID:8187091 ; PMID:10768871 ; PMID:15857185 ; PMID:17411426

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112801384G>A , CM000667.2:g.112801384G>A	GRCh38
NC_000005.9:g.112137081G>A , CM000667.1:g.112137081G>A	GRCh37
NC_000005.8:g.112164980G>A	NCBI36
NG_008481.4:g.113864G>A , LRG_130:g.113864G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.834+1G>A	ENSP00000484935.2:n.834+1G>A
ENST00000504915.3:c.834+1G>A	ENSP00000473355.2:n.834+1G>A
ENST00000505084.2:n.890+1G>A
ENST00000505350.2:c.*840+1G>A	ENSP00000481752.1:n.*840+1G>A
ENST00000507379.6:c.780+1G>A	ENSP00000423224.2:n.780+1G>A
ENST00000509732.6:c.834+1G>A	ENSP00000426541.2:n.834+1G>A
ENST00000512211.7:c.834+1G>A	ENSP00000423828.3:n.834+1G>A
ENST00000257430.9:c.834+1G>A MANE Select	ENSP00000257430.4:n.834+1G>A
ENST00000257430.8:c.834+1G>A	ENSP00000257430.4:n.834+1G>A
ENST00000507379.5:c.780+1G>A	ENSP00000423224.1:n.780+1G>A
ENST00000508376.6:c.834+1G>A	ENSP00000427089.2:n.834+1G>A
ENST00000508624.5:c.834+1G>A	ENSP00000424265.1:n.834+1G>A
ENST00000512211.6:c.834+1G>A	ENSP00000423828.2:n.834+1G>A
NM_000038.5:c.834+1G>A	NP_000029.2:n.834+1G>A
NM_001127510.2:c.834+1G>A	NP_001120982.1:n.834+1G>A
NM_001127511.2:c.780+1G>A	NP_001120983.2:n.780+1G>A
NM_001354895.1:c.834+1G>A	NP_001341824.1:n.834+1G>A
NM_001354896.1:c.834+1G>A	NP_001341825.1:n.834+1G>A
NM_001354897.1:c.864+1G>A	NP_001341826.1:n.864+1G>A
NM_001354898.1:c.759+1G>A	NP_001341827.1:n.759+1G>A
NM_001354899.1:c.750+1G>A	NP_001341828.1:n.750+1G>A
NM_001354900.1:c.657+1G>A	NP_001341829.1:n.657+1G>A
NM_001354901.1:c.657+1G>A	NP_001341830.1:n.657+1G>A
NM_001354902.1:c.864+1G>A	NP_001341831.1:n.864+1G>A
NM_001354903.1:c.834+1G>A	NP_001341832.1:n.834+1G>A
NM_001354904.1:c.759+1G>A	NP_001341833.1:n.759+1G>A
NM_001354905.1:c.657+1G>A	NP_001341834.1:n.657+1G>A
NM_001354906.1:c.-202+1G>A	NP_001341835.1:n.-202+1G>A
NM_000038.6:c.834+1G>A MANE Select	NP_000029.2:n.834+1G>A
NM_001127510.3:c.834+1G>A	NP_001120982.1:n.834+1G>A
NM_001127511.3:c.780+1G>A	NP_001120983.2:n.780+1G>A
NM_001354895.2:c.834+1G>A	NP_001341824.1:n.834+1G>A
NM_001354896.2:c.834+1G>A	NP_001341825.1:n.834+1G>A
NM_001354897.2:c.864+1G>A	NP_001341826.1:n.864+1G>A
NM_001354898.2:c.759+1G>A	NP_001341827.1:n.759+1G>A
NM_001354899.2:c.750+1G>A	NP_001341828.1:n.750+1G>A
NM_001354900.2:c.657+1G>A	NP_001341829.1:n.657+1G>A
NM_001354901.2:c.657+1G>A	NP_001341830.1:n.657+1G>A
NM_001354902.2:c.864+1G>A	NP_001341831.1:n.864+1G>A
NM_001354903.2:c.834+1G>A	NP_001341832.1:n.834+1G>A
NM_001354904.2:c.759+1G>A	NP_001341833.1:n.759+1G>A
NM_001354905.2:c.657+1G>A	NP_001341834.1:n.657+1G>A
NM_001354906.2:c.-202+1G>A	NP_001341835.1:n.-202+1G>A