Canonical Allele Identifier: CA013731

Gene: APC

Linked Data

• ClinVar Variation Id: 41514
• ClinVar RCV Id: RCV000034399 ; RCV000077994 ; RCV000157722 ; RCV000239067 ; RCV000307201 ; RCV001353410 ; RCV003315545
• dbSNP Id: rs2229995
• ExAC: 5:112178795 G / A
• gnomAD v2: 5-112178795-G-A
• gnomAD v3: 5-112843098-G-A
• gnomAD v4: 5-112843098-G-A
• MyVariant Identifiers: chr5:g.112178795G>A (hg19) ; chr5:g.112843098G>A (hg38)
• PubMed: PMID:1316610 ; PMID:15122587 ; PMID:15300854 ; PMID:15824157 ; PMID:16525781 ; PMID:16650078 ; PMID:18612690 ; PMID:20233475 ; PMID:20510605 ; PMID:21752055 ; PMID:22703879 ; PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112843098G>A , CM000667.2:g.112843098G>A	GRCh38
NC_000005.9:g.112178795G>A , CM000667.1:g.112178795G>A	GRCh37
NC_000005.8:g.112206694G>A	NCBI36
NG_008481.4:g.155578G>A , LRG_130:g.155578G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.7558G>A	ENSP00000473355.2:p.Gly2520Ser
ENST00000505350.2:c.*7510G>A	ENSP00000481752.1:n.*7510G>A
ENST00000507379.6:c.7450G>A	ENSP00000423224.2:p.Gly2484Ser
ENST00000509732.6:c.7504G>A	ENSP00000426541.2:p.Gly2502Ser
ENST00000512211.7:c.7504G>A	ENSP00000423828.3:p.Gly2502Ser
ENST00000257430.9:c.7504G>A MANE Select	ENSP00000257430.4:p.Gly2502Ser
ENST00000257430.8:c.7504G>A	ENSP00000257430.4:p.Gly2502Ser
ENST00000508376.6:c.7504G>A	ENSP00000427089.2:p.Gly2502Ser
ENST00000520401.1:c.231-13551G>A
NM_000038.5:c.7504G>A	NP_000029.2:p.Gly2502Ser
NM_001127510.2:c.7504G>A	NP_001120982.1:p.Gly2502Ser
NM_001127511.2:c.7450G>A	NP_001120983.2:p.Gly2484Ser
NM_001354895.1:c.7504G>A	NP_001341824.1:p.Gly2502Ser
NM_001354896.1:c.7558G>A	NP_001341825.1:p.Gly2520Ser
NM_001354897.1:c.7534G>A	NP_001341826.1:p.Gly2512Ser
NM_001354898.1:c.7429G>A	NP_001341827.1:p.Gly2477Ser
NM_001354899.1:c.7420G>A	NP_001341828.1:p.Gly2474Ser
NM_001354900.1:c.7381G>A	NP_001341829.1:p.Gly2461Ser
NM_001354901.1:c.7327G>A	NP_001341830.1:p.Gly2443Ser
NM_001354902.1:c.7231G>A	NP_001341831.1:p.Gly2411Ser
NM_001354903.1:c.7201G>A	NP_001341832.1:p.Gly2401Ser
NM_001354904.1:c.7126G>A	NP_001341833.1:p.Gly2376Ser
NM_001354905.1:c.7024G>A	NP_001341834.1:p.Gly2342Ser
NM_001354906.1:c.6655G>A	NP_001341835.1:p.Gly2219Ser
NM_000038.6:c.7504G>A MANE Select	NP_000029.2:p.Gly2502Ser
NM_001127510.3:c.7504G>A	NP_001120982.1:p.Gly2502Ser
NM_001127511.3:c.7450G>A	NP_001120983.2:p.Gly2484Ser
NM_001354895.2:c.7504G>A	NP_001341824.1:p.Gly2502Ser
NM_001354896.2:c.7558G>A	NP_001341825.1:p.Gly2520Ser
NM_001354897.2:c.7534G>A	NP_001341826.1:p.Gly2512Ser
NM_001354898.2:c.7429G>A	NP_001341827.1:p.Gly2477Ser
NM_001354899.2:c.7420G>A	NP_001341828.1:p.Gly2474Ser
NM_001354900.2:c.7381G>A	NP_001341829.1:p.Gly2461Ser
NM_001354901.2:c.7327G>A	NP_001341830.1:p.Gly2443Ser
NM_001354902.2:c.7231G>A	NP_001341831.1:p.Gly2411Ser
NM_001354903.2:c.7201G>A	NP_001341832.1:p.Gly2401Ser
NM_001354904.2:c.7126G>A	NP_001341833.1:p.Gly2376Ser
NM_001354905.2:c.7024G>A	NP_001341834.1:p.Gly2342Ser
NM_001354906.2:c.6655G>A	NP_001341835.1:p.Gly2219Ser