Canonical Allele Identifier: CA053928

Gene: APC

Linked Data

• ClinVar Variation Id: 371859
• ClinVar RCV Id: RCV000412427 ; RCV004022150 ; RCV003493564 ; RCV003650579
• dbSNP Id: rs367773779
• ExAC: 5:112043544 G / A
• gnomAD v2: 5-112043544-G-A
• gnomAD v3: 5-112707847-G-A
• gnomAD v4: 5-112707847-G-A
• MyVariant Identifiers: chr5:g.112043544G>A (hg19) ; chr5:g.112707847G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707847G>A , CM000667.2:g.112707847G>A	GRCh38
NC_000005.9:g.112043544G>A , CM000667.1:g.112043544G>A	GRCh37
NC_000005.8:g.112071443G>A	NCBI36
NG_008481.4:g.20327G>A , LRG_130:g.20327G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.130G>A	ENSP00000481752.1:p.Ala44Thr
ENST00000507379.6:c.130G>A	ENSP00000423224.2:p.Ala44Thr
ENST00000509732.6:c.-19+198G>A	ENSP00000426541.2:n.-19+198G>A
ENST00000505350.1:c.130G>A	ENSP00000481752.1:p.Ala44Thr
ENST00000507379.5:c.130G>A	ENSP00000423224.1:p.Ala44Thr
ENST00000509732.5:c.-19+198G>A	ENSP00000426541.1:n.-19+198G>A
NM_001127511.2:c.130G>A	NP_001120983.2:p.Ala44Thr
NM_001354895.1:c.-54G>A	NP_001341824.1:n.-54G>A
NM_001354897.1:c.130G>A	NP_001341826.1:p.Ala44Thr
NM_001354902.1:c.130G>A	NP_001341831.1:p.Ala44Thr
NM_001127511.3:c.130G>A	NP_001120983.2:p.Ala44Thr
NM_001354895.2:c.-54G>A	NP_001341824.1:n.-54G>A
NM_001354897.2:c.130G>A	NP_001341826.1:p.Ala44Thr
NM_001354902.2:c.130G>A	NP_001341831.1:p.Ala44Thr