Canonical Allele Identifier: CA026798

Gene: APC

Linked Data

• ClinVar Variation Id: 2844926
• ClinVar RCV Id: RCV003652491
• dbSNP Id: rs772381494
• ExAC: 5:112154874 G / A
• gnomAD v2: 5-112154874-G-A
• gnomAD v4: 5-112819177-G-A
• MyVariant Identifiers: chr5:g.112154874G>A (hg19) ; chr5:g.112819177G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112819177G>A , CM000667.2:g.112819177G>A	GRCh38
NC_000005.9:g.112154874G>A , CM000667.1:g.112154874G>A	GRCh37
NC_000005.8:g.112182773G>A	NCBI36
NG_008481.4:g.131657G>A , LRG_130:g.131657G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000502371.3:c.1145G>A	ENSP00000484935.2:p.Arg382Lys
ENST00000504915.3:c.1145G>A	ENSP00000473355.2:p.Arg382Lys
ENST00000505084.2:n.1201G>A
ENST00000505350.2:c.*1151G>A	ENSP00000481752.1:n.*1151G>A
ENST00000507379.6:c.1091G>A	ENSP00000423224.2:p.Arg364Lys
ENST00000509732.6:c.1145G>A	ENSP00000426541.2:p.Arg382Lys
ENST00000512211.7:c.1145G>A	ENSP00000423828.3:p.Arg382Lys
ENST00000257430.9:c.1145G>A MANE Select	ENSP00000257430.4:p.Arg382Lys
ENST00000257430.8:c.1145G>A	ENSP00000257430.4:p.Arg382Lys
ENST00000507379.5:c.1091G>A	ENSP00000423224.1:p.Arg364Lys
ENST00000508376.6:c.1145G>A	ENSP00000427089.2:p.Arg382Lys
ENST00000508624.5:c.*467G>A	ENSP00000424265.1:n.*467G>A
ENST00000512211.6:c.1145G>A	ENSP00000423828.2:p.Arg382Lys
NM_000038.5:c.1145G>A	NP_000029.2:p.Arg382Lys
NM_001127510.2:c.1145G>A	NP_001120982.1:p.Arg382Lys
NM_001127511.2:c.1091G>A	NP_001120983.2:p.Arg364Lys
NM_001354895.1:c.1145G>A	NP_001341824.1:p.Arg382Lys
NM_001354896.1:c.1145G>A	NP_001341825.1:p.Arg382Lys
NM_001354897.1:c.1175G>A	NP_001341826.1:p.Arg392Lys
NM_001354898.1:c.1070G>A	NP_001341827.1:p.Arg357Lys
NM_001354899.1:c.1061G>A	NP_001341828.1:p.Arg354Lys
NM_001354900.1:c.968G>A	NP_001341829.1:p.Arg323Lys
NM_001354901.1:c.968G>A	NP_001341830.1:p.Arg323Lys
NM_001354902.1:c.964-92G>A	NP_001341831.1:n.964-92G>A
NM_001354903.1:c.934-92G>A	NP_001341832.1:n.934-92G>A
NM_001354904.1:c.859-92G>A	NP_001341833.1:n.859-92G>A
NM_001354905.1:c.757-92G>A	NP_001341834.1:n.757-92G>A
NM_001354906.1:c.296G>A	NP_001341835.1:p.Arg99Lys
NM_000038.6:c.1145G>A MANE Select	NP_000029.2:p.Arg382Lys
NM_001127510.3:c.1145G>A	NP_001120982.1:p.Arg382Lys
NM_001127511.3:c.1091G>A	NP_001120983.2:p.Arg364Lys
NM_001354895.2:c.1145G>A	NP_001341824.1:p.Arg382Lys
NM_001354896.2:c.1145G>A	NP_001341825.1:p.Arg382Lys
NM_001354897.2:c.1175G>A	NP_001341826.1:p.Arg392Lys
NM_001354898.2:c.1070G>A	NP_001341827.1:p.Arg357Lys
NM_001354899.2:c.1061G>A	NP_001341828.1:p.Arg354Lys
NM_001354900.2:c.968G>A	NP_001341829.1:p.Arg323Lys
NM_001354901.2:c.968G>A	NP_001341830.1:p.Arg323Lys
NM_001354902.2:c.964-92G>A	NP_001341831.1:n.964-92G>A
NM_001354903.2:c.934-92G>A	NP_001341832.1:n.934-92G>A
NM_001354904.2:c.859-92G>A	NP_001341833.1:n.859-92G>A
NM_001354905.2:c.757-92G>A	NP_001341834.1:n.757-92G>A
NM_001354906.2:c.296G>A	NP_001341835.1:p.Arg99Lys