Canonical Allele Identifier: CA387643220

Gene: PDX1 PLUT

Linked Data

• ClinVar Variation Id: 586037
• ClinVar RCV Id: RCV000712004 ; RCV002493262 ; RCV003151139 ; RCV002463733
• dbSNP Id: rs1380564366
• gnomAD v2: 13-28494283-G-C
• gnomAD v3: 13-27920146-G-C
• gnomAD v4: 13-27920146-G-C
• MyVariant Identifiers: chr13:g.28494283G>C (hg19) ; chr13:g.27920146G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920146G>C , CM000675.2:g.27920146G>C	GRCh38
NC_000013.10:g.28494283G>C , CM000675.1:g.28494283G>C	GRCh37
NC_000013.9:g.27392283G>C	NCBI36
NG_008183.1:g.5116G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.8G>C (PDX1) MANE Select	ENSP00000370421.4:p.Gly3Ala
ENST00000381033.4:c.8G>C (PDX1)	ENSP00000370421.4:p.Gly3Ala
NM_000209.3:c.8G>C (PDX1)	NP_000200.1:p.Gly3Ala
NR_047484.1:n.241+1018C>G (PLUT)
XR_941578.1:n.153G>C (PDX1)
XR_941579.1:n.153G>C (PDX1)
XR_941580.1:n.153G>C (PDX1)
XR_941578.2:n.165G>C (PDX1)
XR_941580.2:n.165G>C (PDX1)
NM_000209.4:c.8G>C (PDX1) MANE Select	NP_000200.1:p.Gly3Ala