Canonical Allele Identifier: CA360612224

Gene: APC

Linked Data

• ClinVar Variation Id: 537613
• ClinVar RCV Id: RCV003538551
• dbSNP Id: rs1312050427
• gnomAD v2: 5-112043577-C-A
• gnomAD v4: 5-112707880-C-A
• MyVariant Identifiers: chr5:g.112043577C>A (hg19) ; chr5:g.112707880C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707880C>A , CM000667.2:g.112707880C>A	GRCh38
NC_000005.9:g.112043577C>A , CM000667.1:g.112043577C>A	GRCh37
NC_000005.8:g.112071476C>A	NCBI36
NG_008481.4:g.20360C>A , LRG_130:g.20360C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.163C>A	ENSP00000481752.1:p.Gln55Lys
ENST00000507379.6:c.163C>A	ENSP00000423224.2:p.Gln55Lys
ENST00000509732.6:c.-19+231C>A	ENSP00000426541.2:n.-19+231C>A
ENST00000505350.1:c.163C>A	ENSP00000481752.1:p.Gln55Lys
ENST00000507379.5:c.163C>A	ENSP00000423224.1:p.Gln55Lys
ENST00000509732.5:c.-19+231C>A	ENSP00000426541.1:n.-19+231C>A
NM_001127511.2:c.163C>A	NP_001120983.2:p.Gln55Lys
NM_001354895.1:c.-21C>A	NP_001341824.1:n.-21C>A
NM_001354897.1:c.163C>A	NP_001341826.1:p.Gln55Lys
NM_001354902.1:c.163C>A	NP_001341831.1:p.Gln55Lys
NM_001127511.3:c.163C>A	NP_001120983.2:p.Gln55Lys
NM_001354895.2:c.-21C>A	NP_001341824.1:n.-21C>A
NM_001354897.2:c.163C>A	NP_001341826.1:p.Gln55Lys
NM_001354902.2:c.163C>A	NP_001341831.1:p.Gln55Lys