Canonical Allele Identifier: CA009992

Gene: APC

Linked Data

• ClinVar Variation Id: 42244
• ClinVar RCV Id: RCV000035075 ; RCV000128954 ; RCV000298427 ; RCV000513120 ; RCV003650360
• dbSNP Id: rs34506289
• ExAC: 5:112176556 G / A
• gnomAD v2: 5-112176556-G-A
• gnomAD v3: 5-112840859-G-A
• gnomAD v4: 5-112840859-G-A
• MyVariant Identifiers: chr5:g.112176556G>A (hg19) ; chr5:g.112176556_112176559delinsATCT (hg19) ; chr5:g.112840859G>A (hg38) ; chr5:g.112840859_112840862delinsATCT (hg38)
• PubMed: PMID:16650078

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112840859G>A , CM000667.2:g.112840859G>A	GRCh38
NC_000005.9:g.112176556G>A , CM000667.1:g.112176556G>A	GRCh37
NC_000005.8:g.112204455G>A	NCBI36
NG_008481.4:g.153339G>A , LRG_130:g.153339G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5319G>A	ENSP00000473355.2:p.Ala1773=
ENST00000505350.2:c.*5271G>A	ENSP00000481752.1:n.*5271G>A
ENST00000507379.6:c.5211G>A	ENSP00000423224.2:p.Ala1737=
ENST00000509732.6:c.5265G>A	ENSP00000426541.2:p.Ala1755=
ENST00000512211.7:c.5265G>A	ENSP00000423828.3:p.Ala1755=
ENST00000257430.9:c.5265G>A MANE Select	ENSP00000257430.4:p.Ala1755=
ENST00000257430.8:c.5265G>A	ENSP00000257430.4:p.Ala1755=
ENST00000508376.6:c.5265G>A	ENSP00000427089.2:p.Ala1755=
ENST00000508624.5:c.*4587G>A	ENSP00000424265.1:n.*4587G>A
ENST00000520401.1:c.230+11887G>A
NM_000038.5:c.5265G>A	NP_000029.2:p.Ala1755=
NM_001127510.2:c.5265G>A	NP_001120982.1:p.Ala1755=
NM_001127511.2:c.5211G>A	NP_001120983.2:p.Ala1737=
NM_001354895.1:c.5265G>A	NP_001341824.1:p.Ala1755=
NM_001354896.1:c.5319G>A	NP_001341825.1:p.Ala1773=
NM_001354897.1:c.5295G>A	NP_001341826.1:p.Ala1765=
NM_001354898.1:c.5190G>A	NP_001341827.1:p.Ala1730=
NM_001354899.1:c.5181G>A	NP_001341828.1:p.Ala1727=
NM_001354900.1:c.5142G>A	NP_001341829.1:p.Ala1714=
NM_001354901.1:c.5088G>A	NP_001341830.1:p.Ala1696=
NM_001354902.1:c.4992G>A	NP_001341831.1:p.Ala1664=
NM_001354903.1:c.4962G>A	NP_001341832.1:p.Ala1654=
NM_001354904.1:c.4887G>A	NP_001341833.1:p.Ala1629=
NM_001354905.1:c.4785G>A	NP_001341834.1:p.Ala1595=
NM_001354906.1:c.4416G>A	NP_001341835.1:p.Ala1472=
NM_000038.6:c.5265G>A MANE Select	NP_000029.2:p.Ala1755=
NM_001127510.3:c.5265G>A	NP_001120982.1:p.Ala1755=
NM_001127511.3:c.5211G>A	NP_001120983.2:p.Ala1737=
NM_001354895.2:c.5265G>A	NP_001341824.1:p.Ala1755=
NM_001354896.2:c.5319G>A	NP_001341825.1:p.Ala1773=
NM_001354897.2:c.5295G>A	NP_001341826.1:p.Ala1765=
NM_001354898.2:c.5190G>A	NP_001341827.1:p.Ala1730=
NM_001354899.2:c.5181G>A	NP_001341828.1:p.Ala1727=
NM_001354900.2:c.5142G>A	NP_001341829.1:p.Ala1714=
NM_001354901.2:c.5088G>A	NP_001341830.1:p.Ala1696=
NM_001354902.2:c.4992G>A	NP_001341831.1:p.Ala1664=
NM_001354903.2:c.4962G>A	NP_001341832.1:p.Ala1654=
NM_001354904.2:c.4887G>A	NP_001341833.1:p.Ala1629=
NM_001354905.2:c.4785G>A	NP_001341834.1:p.Ala1595=
NM_001354906.2:c.4416G>A	NP_001341835.1:p.Ala1472=