Canonical Allele Identifier: CA360611647

Gene: APC

Linked Data

• ClinVar Variation Id: 537655
• ClinVar RCV Id: RCV003767868
• dbSNP Id: rs1291188034
• gnomAD v2: 5-112043439-C-A
• gnomAD v4: 5-112707742-C-A
• MyVariant Identifiers: chr5:g.112043439C>A (hg19) ; chr5:g.112707742C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707742C>A , CM000667.2:g.112707742C>A	GRCh38
NC_000005.9:g.112043439C>A , CM000667.1:g.112043439C>A	GRCh37
NC_000005.8:g.112071338C>A	NCBI36
NG_008481.4:g.20222C>A , LRG_130:g.20222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.25C>A	ENSP00000481752.1:p.Pro9Thr
ENST00000507379.6:c.25C>A	ENSP00000423224.2:p.Pro9Thr
ENST00000509732.6:c.-19+93C>A	ENSP00000426541.2:n.-19+93C>A
ENST00000505350.1:c.25C>A	ENSP00000481752.1:p.Pro9Thr
ENST00000507379.5:c.25C>A	ENSP00000423224.1:p.Pro9Thr
ENST00000509732.5:c.-19+93C>A	ENSP00000426541.1:n.-19+93C>A
NM_001127511.2:c.25C>A	NP_001120983.2:p.Pro9Thr
NM_001354895.1:c.-159C>A	NP_001341824.1:n.-159C>A
NM_001354897.1:c.25C>A	NP_001341826.1:p.Pro9Thr
NM_001354902.1:c.25C>A	NP_001341831.1:p.Pro9Thr
NM_001127511.3:c.25C>A	NP_001120983.2:p.Pro9Thr
NM_001354895.2:c.-159C>A	NP_001341824.1:n.-159C>A
NM_001354897.2:c.25C>A	NP_001341826.1:p.Pro9Thr
NM_001354902.2:c.25C>A	NP_001341831.1:p.Pro9Thr