Canonical Allele Identifier: CA10225082

Gene: TRIOBP

Linked Data

• ClinVar Variation Id: 229368
• ClinVar RCV Id: RCV000215900 ; RCV000765640 ; RCV001857752
• dbSNP Id: rs200528850
• ExAC: 22:38164123 G / A
• gnomAD v2: 22-38164123-G-A
• gnomAD v3: 22-37768116-G-A
• gnomAD v4: 22-37768116-G-A
• COSMIC: COSM3150837
• MyVariant Identifiers: chr22:g.38164123G>A (hg19) ; chr22:g.37768116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37768116G>A , CM000684.2:g.37768116G>A	GRCh38
NC_000022.10:g.38164123G>A , CM000684.1:g.38164123G>A	GRCh37
NC_000022.9:g.36494069G>A	NCBI36
NG_012857.1:g.76129G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644935.1:c.6515G>A MANE Select	ENSP00000496394.1:p.Arg2172Gln
ENST00000344404.10:c.*5998G>A	ENSP00000340312.6:n.*5998G>A
ENST00000403663.6:c.1376G>A	ENSP00000386026.2:p.Arg459Gln
ENST00000406386.7:c.6515G>A	ENSP00000384312.3:p.Arg2172Gln
NM_001039141.2:c.6515G>A	NP_001034230.1:p.Arg2172Gln
NM_007032.5:c.1376G>A	NP_008963.3:p.Arg459Gln
NM_001039141.3:c.6515G>A MANE Select	NP_001034230.1:p.Arg2172Gln