Canonical Allele Identifier: CA9393100

Gene: TYROBP

Linked Data

• ClinVar Variation Id: 595538
• ClinVar RCV Id: RCV000731110 ; RCV003165973
• dbSNP Id: rs201680032
• ExAC: 19:36398458 G / A
• gnomAD v2: 19-36398458-G-A
• gnomAD v3: 19-35907556-G-A
• gnomAD v4: 19-35907556-G-A
• MyVariant Identifiers: chr19:g.36398458G>A (hg19) ; chr19:g.35907556G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35907556G>A , CM000681.2:g.35907556G>A	GRCh38
NC_000019.9:g.36398458G>A , CM000681.1:g.36398458G>A	GRCh37
NC_000019.8:g.41090298G>A	NCBI36
NG_009304.1:g.5729C>T , LRG_607:g.5729C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262629.9:c.119C>T MANE Select	ENSP00000262629.3:p.Pro40Leu
ENST00000262629.8:c.119C>T	ENSP00000262629.3:p.Pro40Leu
ENST00000424586.7:c.86C>T	ENSP00000402371.3:p.Pro29Leu
ENST00000544690.6:c.86C>T	ENSP00000445332.1:p.Pro29Leu
ENST00000585626.1:n.186C>T
ENST00000585901.6:c.119C>T	ENSP00000468608.1:p.Pro40Leu
ENST00000586946.1:c.*4C>T	ENSP00000465656.1:n.*4C>T
ENST00000587837.5:c.*4C>T	ENSP00000465081.1:n.*4C>T
ENST00000588439.1:n.263C>T
ENST00000589517.1:c.119C>T	ENSP00000468447.1:p.Pro40Leu
NM_001173514.1:c.86C>T	NP_001166985.1:p.Pro29Leu
NM_001173515.1:c.86C>T	NP_001166986.1:p.Pro29Leu
NM_003332.3:c.119C>T , LRG_607t1:c.119C>T	NP_003323.1:p.Pro40Leu
NM_198125.2:c.119C>T	NP_937758.1:p.Pro40Leu
NR_033390.1:n.160C>T
NM_001173514.2:c.86C>T	NP_001166985.1:p.Pro29Leu
NM_001173515.2:c.86C>T	NP_001166986.1:p.Pro29Leu
NM_003332.4:c.119C>T MANE Select	NP_003323.1:p.Pro40Leu
NM_198125.3:c.119C>T	NP_937758.1:p.Pro40Leu
NR_033390.2:n.146C>T