Canonical Allele Identifier: CA16042076

Gene: APC

Linked Data

• ClinVar Variation Id: 371850
• ClinVar RCV Id: RCV000411262 ; RCV003535697
• dbSNP Id: rs1057517567
• gnomAD v3: 5-112707720-G-A
• gnomAD v4: 5-112707720-G-A
• MyVariant Identifiers: chr5:g.112043417G>A (hg19) ; chr5:g.112707720G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707720G>A , CM000667.2:g.112707720G>A	GRCh38
NC_000005.9:g.112043417G>A , CM000667.1:g.112043417G>A	GRCh37
NC_000005.8:g.112071316G>A	NCBI36
NG_008481.4:g.20200G>A , LRG_130:g.20200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.3G>A	ENSP00000481752.1:p.Met1Ile
ENST00000507379.6:c.3G>A	ENSP00000423224.2:p.Met1Ile
ENST00000509732.6:c.-19+71G>A	ENSP00000426541.2:n.-19+71G>A
ENST00000505350.1:c.3G>A	ENSP00000481752.1:p.Met1Ile
ENST00000507379.5:c.3G>A	ENSP00000423224.1:p.Met1Ile
ENST00000509732.5:c.-19+71G>A	ENSP00000426541.1:n.-19+71G>A
NM_001127511.2:c.3G>A	NP_001120983.2:p.Met1Ile
NM_001354895.1:c.-181G>A	NP_001341824.1:n.-181G>A
NM_001354897.1:c.3G>A	NP_001341826.1:p.Met1Ile
NM_001354902.1:c.3G>A	NP_001341831.1:p.Met1Ile
NM_001127511.3:c.3G>A	NP_001120983.2:p.Met1Ile
NM_001354895.2:c.-181G>A	NP_001341824.1:n.-181G>A
NM_001354897.2:c.3G>A	NP_001341826.1:p.Met1Ile
NM_001354902.2:c.3G>A	NP_001341831.1:p.Met1Ile