Canonical Allele Identifier: CA10223483
Gene: TRIOBP HGNC NCBI

Linked Data

ClinVar Variation Id: 1200691
ClinVar RCV Id: RCV001565785
dbSNP Id: rs191880936
ExAC: 22:38119514 G / T
gnomAD v2: 22-38119514-G-T
gnomAD v3: 22-37723507-G-T
gnomAD v4: 22-37723507-G-T
MyVariant Identifiers: chr22:g.38119514G>T (hg19) chr22:g.37723507G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37723507G>T , CM000684.2:g.37723507G>T GRCh38
NC_000022.10:g.38119514G>T , CM000684.1:g.38119514G>T GRCh37
NC_000022.9:g.36449460G>T NCBI36
NG_012857.1:g.31520G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000644935.1:c.951G>T MANE Select ENSP00000496394.1:p.Glu317Asp
ENST00000344404.10:c.*434G>T ENSP00000340312.6:n.*434G>T
ENST00000406386.7:c.951G>T ENSP00000384312.3:p.Glu317Asp
ENST00000455236.4:c.1908G>T ENSP00000477208.1:n.1908G>T
ENST00000492485.5:n.885G>T
NM_001039141.2:c.951G>T NP_001034230.1:p.Glu317Asp
NM_001039141.3:c.951G>T MANE Select NP_001034230.1:p.Glu317Asp
Search 100 bp 5'
Search 100 bp 3'