Canonical Allele Identifier: CA10224731

Gene: TRIOBP

Linked Data

• ClinVar Variation Id: 505084
• ClinVar RCV Id: RCV000599724 ; RCV001591364
• dbSNP Id: rs531565607
• ExAC: 22:38151149 G / A
• gnomAD v2: 22-38151149-G-A
• gnomAD v3: 22-37755142-G-A
• gnomAD v4: 22-37755142-G-A
• COSMIC: COSM3150800 ; COSM3150801
• MyVariant Identifiers: chr22:g.38151149G>A (hg19) ; chr22:g.37755142G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37755142G>A , CM000684.2:g.37755142G>A	GRCh38
NC_000022.10:g.38151149G>A , CM000684.1:g.38151149G>A	GRCh37
NC_000022.9:g.36481095G>A	NCBI36
NG_012857.1:g.63155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407319.7:c.390G>A	ENSP00000383913.2:p.Thr130=
ENST00000644935.1:c.5529G>A MANE Select	ENSP00000496394.1:p.Thr1843=
ENST00000331103.5:n.145G>A
ENST00000344404.10:c.*5012G>A	ENSP00000340312.6:n.*5012G>A
ENST00000403663.6:c.390G>A	ENSP00000386026.2:p.Thr130=
ENST00000406386.7:c.5529G>A	ENSP00000384312.3:p.Thr1843=
ENST00000407319.6:c.390G>A	ENSP00000383913.2:p.Thr130=
ENST00000413051.2:c.395G>A	ENSP00000400680.2:n.395G>A
ENST00000417857.1:c.177G>A	ENSP00000387881.1:p.Thr59=
ENST00000418339.5:c.267G>A	ENSP00000396946.1:p.Thr89=
ENST00000428075.5:c.250G>A
ENST00000452519.5:c.177G>A	ENSP00000407542.1:p.Thr59=
NM_001039141.2:c.5529G>A	NP_001034230.1:p.Thr1843=
NM_007032.5:c.390G>A	NP_008963.3:p.Thr130=
NM_138632.2:c.390G>A	NP_619538.2:p.Thr130=
NM_001039141.3:c.5529G>A MANE Select	NP_001034230.1:p.Thr1843=