Canonical Allele Identifier: CA054951

Gene: APC

Linked Data

• ClinVar Variation Id: 1483771
• ClinVar RCV Id: RCV003773181
• dbSNP Id: rs758585951
• ExAC: 5:112043578 A / G
• gnomAD v2: 5-112043578-A-G
• gnomAD v4: 5-112707881-A-G
• MyVariant Identifiers: chr5:g.112043578A>G (hg19) ; chr5:g.112707881A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707881A>G , CM000667.2:g.112707881A>G	GRCh38
NC_000005.9:g.112043578A>G , CM000667.1:g.112043578A>G	GRCh37
NC_000005.8:g.112071477A>G	NCBI36
NG_008481.4:g.20361A>G , LRG_130:g.20361A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.164A>G	ENSP00000481752.1:p.Gln55Arg
ENST00000507379.6:c.164A>G	ENSP00000423224.2:p.Gln55Arg
ENST00000509732.6:c.-19+232A>G	ENSP00000426541.2:n.-19+232A>G
ENST00000505350.1:c.164A>G	ENSP00000481752.1:p.Gln55Arg
ENST00000507379.5:c.164A>G	ENSP00000423224.1:p.Gln55Arg
ENST00000509732.5:c.-19+232A>G	ENSP00000426541.1:n.-19+232A>G
NM_001127511.2:c.164A>G	NP_001120983.2:p.Gln55Arg
NM_001354895.1:c.-20A>G	NP_001341824.1:n.-20A>G
NM_001354897.1:c.164A>G	NP_001341826.1:p.Gln55Arg
NM_001354902.1:c.164A>G	NP_001341831.1:p.Gln55Arg
NM_001127511.3:c.164A>G	NP_001120983.2:p.Gln55Arg
NM_001354895.2:c.-20A>G	NP_001341824.1:n.-20A>G
NM_001354897.2:c.164A>G	NP_001341826.1:p.Gln55Arg
NM_001354902.2:c.164A>G	NP_001341831.1:p.Gln55Arg