Canonical Allele Identifier: CA10224798

Gene: TRIOBP

Linked Data

• ClinVar Variation Id: 229363
• ClinVar RCV Id: RCV000219620 ; RCV000727151 ; RCV000765639 ; RCV003929911 ; RCV004020639
• dbSNP Id: rs138804394
• ExAC: 22:38153637 A / C
• gnomAD v2: 22-38153637-A-C
• gnomAD v3: 22-37757630-A-C
• gnomAD v4: 22-37757630-A-C
• MyVariant Identifiers: chr22:g.38153637A>C (hg19) ; chr22:g.37757630A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37757630A>C , CM000684.2:g.37757630A>C	GRCh38
NC_000022.10:g.38153637A>C , CM000684.1:g.38153637A>C	GRCh37
NC_000022.9:g.36483583A>C	NCBI36
NG_012857.1:g.65643A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000407319.7:c.566A>C	ENSP00000383913.2:p.Lys189Thr
ENST00000644935.1:c.5705A>C MANE Select	ENSP00000496394.1:p.Lys1902Thr
ENST00000344404.10:c.*5188A>C	ENSP00000340312.6:n.*5188A>C
ENST00000403663.6:c.566A>C	ENSP00000386026.2:p.Lys189Thr
ENST00000406386.7:c.5705A>C	ENSP00000384312.3:p.Lys1902Thr
ENST00000407319.6:c.566A>C	ENSP00000383913.2:p.Lys189Thr
ENST00000413051.2:c.571A>C	ENSP00000400680.2:n.571A>C
ENST00000417857.1:c.353A>C	ENSP00000387881.1:p.Lys118Thr
ENST00000418339.5:c.443A>C	ENSP00000396946.1:p.Lys148Thr
ENST00000428075.5:c.426A>C
NM_001039141.2:c.5705A>C	NP_001034230.1:p.Lys1902Thr
NM_007032.5:c.566A>C	NP_008963.3:p.Lys189Thr
NM_138632.2:c.566A>C	NP_619538.2:p.Lys189Thr
NM_001039141.3:c.5705A>C MANE Select	NP_001034230.1:p.Lys1902Thr