Canonical Allele Identifier: CA133028

Gene: TRIOBP

Linked Data

• ClinVar Variation Id: 43852
• ClinVar RCV Id: RCV000036819 ; RCV000902443 ; RCV002490498
• dbSNP Id: rs139074745
• ExAC: 22:38130420 T / C
• gnomAD v2: 22-38130420-T-C
• gnomAD v3: 22-37734413-T-C
• gnomAD v4: 22-37734413-T-C
• MyVariant Identifiers: chr22:g.38130420T>C (hg19) ; chr22:g.37734413T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37734413T>C , CM000684.2:g.37734413T>C	GRCh38
NC_000022.10:g.38130420T>C , CM000684.1:g.38130420T>C	GRCh37
NC_000022.9:g.36460366T>C	NCBI36
NG_012857.1:g.42426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644935.1:c.4077T>C MANE Select	ENSP00000496394.1:p.Pro1359=
ENST00000344404.10:c.*3560T>C	ENSP00000340312.6:n.*3560T>C
ENST00000406386.7:c.4077T>C	ENSP00000384312.3:p.Pro1359=
NM_001039141.2:c.4077T>C	NP_001034230.1:p.Pro1359=
XM_011530646.1:c.512-4054A>G	XP_011528948.1:n.512-4054A>G
NM_001039141.3:c.4077T>C MANE Select	NP_001034230.1:p.Pro1359=