Canonical Allele Identifier: CA483175782

Gene: PDX1 PLUT

Linked Data

• ClinVar Variation Id: 1789991
• ClinVar RCV Id: RCV002448389
• dbSNP Id: rs1362293358
• gnomAD v2: 13-28494509-G-T
• gnomAD v4: 13-27920372-G-T
• MyVariant Identifiers: chr13:g.28494509G>T (hg19) ; chr13:g.27920372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27920372G>T , CM000675.2:g.27920372G>T	GRCh38
NC_000013.10:g.28494509G>T , CM000675.1:g.28494509G>T	GRCh37
NC_000013.9:g.27392509G>T	NCBI36
NG_008183.1:g.5342G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381033.5:c.234G>T (PDX1) MANE Select	ENSP00000370421.4:p.Ala78=
ENST00000381033.4:c.234G>T (PDX1)	ENSP00000370421.4:p.Ala78=
NM_000209.3:c.234G>T (PDX1)	NP_000200.1:p.Ala78=
NR_047484.1:n.241+792C>A (PLUT)
XR_941578.1:n.379G>T (PDX1)
XR_941579.1:n.379G>T (PDX1)
XR_941580.1:n.379G>T (PDX1)
XR_941578.2:n.391G>T (PDX1)
XR_941580.2:n.391G>T (PDX1)
NM_000209.4:c.234G>T (PDX1) MANE Select	NP_000200.1:p.Ala78=