Canonical Allele Identifier: CA387644553
Gene: PDX1 HGNC NCBI
PLUT HGNC NCBI

Linked Data

ClinVar Variation Id: 1928906
ClinVar RCV Id: RCV002635159
dbSNP Id: rs1362316342
gnomAD v2: 13-28494504-C-T
gnomAD v3: 13-27920367-C-T
gnomAD v4: 13-27920367-C-T
MyVariant Identifiers: chr13:g.28494504C>T (hg19) chr13:g.27920367C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.27920367C>T , CM000675.2:g.27920367C>T GRCh38
NC_000013.10:g.28494504C>T , CM000675.1:g.28494504C>T GRCh37
NC_000013.9:g.27392504C>T NCBI36
NG_008183.1:g.5337C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000381033.5:c.229C>T (PDX1) MANE Select ENSP00000370421.4:p.Pro77Ser
ENST00000381033.4:c.229C>T (PDX1) ENSP00000370421.4:p.Pro77Ser
NM_000209.3:c.229C>T (PDX1) NP_000200.1:p.Pro77Ser
NR_047484.1:n.241+797G>A (PLUT)
XR_941578.1:n.374C>T (PDX1)
XR_941579.1:n.374C>T (PDX1)
XR_941580.1:n.374C>T (PDX1)
XR_941578.2:n.386C>T (PDX1)
XR_941580.2:n.386C>T (PDX1)
NM_000209.4:c.229C>T (PDX1) MANE Select NP_000200.1:p.Pro77Ser
Search 100 bp 5'
Search 100 bp 3'