Canonical Allele Identifier: CA182544
Gene: TRIOBP HGNC NCBI

Linked Data

ClinVar Variation Id: 178553
ClinVar RCV Id: RCV000155301 RCV000724128
dbSNP Id: rs368119524
ExAC: 22:38111796 G / A
gnomAD v2: 22-38111796-G-A
gnomAD v3: 22-37715789-G-A
gnomAD v4: 22-37715789-G-A
MyVariant Identifiers: chr22:g.38111796G>A (hg19) chr22:g.37715789G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37715789G>A , CM000684.2:g.37715789G>A GRCh38
NC_000022.10:g.38111796G>A , CM000684.1:g.38111796G>A GRCh37
NC_000022.9:g.36441742G>A NCBI36
NG_012857.1:g.23802G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000644935.1:c.483G>A MANE Select ENSP00000496394.1:p.Glu161=
ENST00000344404.10:c.281G>A ENSP00000340312.6:p.Arg94Lys
ENST00000406386.7:c.483G>A ENSP00000384312.3:p.Glu161=
ENST00000455236.4:c.1440G>A ENSP00000477208.1:n.1440G>A
ENST00000492485.5:n.417G>A
NM_001039141.2:c.483G>A NP_001034230.1:p.Glu161=
NM_001039141.3:c.483G>A MANE Select NP_001034230.1:p.Glu161=
Search 100 bp 5'
Search 100 bp 3'