Canonical Allele Identifier: CA16042077

Gene: APC

Linked Data

• ClinVar Variation Id: 372042
• ClinVar RCV Id: RCV000409172 ; RCV003650580
• dbSNP Id: rs980704771
• gnomAD v2: 5-112043462-T-C
• gnomAD v3: 5-112707765-T-C
• gnomAD v4: 5-112707765-T-C
• MyVariant Identifiers: chr5:g.112043462T>C (hg19) ; chr5:g.112707765T>C (hg38)
• PubMed: PMID:27217144

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112707765T>C , CM000667.2:g.112707765T>C	GRCh38
NC_000005.9:g.112043462T>C , CM000667.1:g.112043462T>C	GRCh37
NC_000005.8:g.112071361T>C	NCBI36
NG_008481.4:g.20245T>C , LRG_130:g.20245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000505350.2:c.48T>C	ENSP00000481752.1:p.Ser16=
ENST00000507379.6:c.48T>C	ENSP00000423224.2:p.Ser16=
ENST00000509732.6:c.-19+116T>C	ENSP00000426541.2:n.-19+116T>C
ENST00000505350.1:c.48T>C	ENSP00000481752.1:p.Ser16=
ENST00000507379.5:c.48T>C	ENSP00000423224.1:p.Ser16=
ENST00000509732.5:c.-19+116T>C	ENSP00000426541.1:n.-19+116T>C
NM_001127511.2:c.48T>C	NP_001120983.2:p.Ser16=
NM_001354895.1:c.-136T>C	NP_001341824.1:n.-136T>C
NM_001354897.1:c.48T>C	NP_001341826.1:p.Ser16=
NM_001354902.1:c.48T>C	NP_001341831.1:p.Ser16=
NM_001127511.3:c.48T>C	NP_001120983.2:p.Ser16=
NM_001354895.2:c.-136T>C	NP_001341824.1:n.-136T>C
NM_001354897.2:c.48T>C	NP_001341826.1:p.Ser16=
NM_001354902.2:c.48T>C	NP_001341831.1:p.Ser16=