Canonical Allele Identifier: CA9393094

Gene: TYROBP

Linked Data

• ClinVar Variation Id: 1449571
• ClinVar RCV Id: RCV001997614 ; RCV003250347
• dbSNP Id: rs78458519
• ExAC: 19:36398453 C / T
• gnomAD v2: 19-36398453-C-T
• gnomAD v3: 19-35907551-C-T
• gnomAD v4: 19-35907551-C-T
• MyVariant Identifiers: chr19:g.36398453C>T (hg19) ; chr19:g.35907551C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35907551C>T , CM000681.2:g.35907551C>T	GRCh38
NC_000019.9:g.36398453C>T , CM000681.1:g.36398453C>T	GRCh37
NC_000019.8:g.41090293C>T	NCBI36
NG_009304.1:g.5734G>A , LRG_607:g.5734G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262629.9:c.124G>A MANE Select	ENSP00000262629.3:p.Val42Met
ENST00000262629.8:c.124G>A	ENSP00000262629.3:p.Val42Met
ENST00000424586.7:c.91G>A	ENSP00000402371.3:p.Val31Met
ENST00000544690.6:c.91G>A	ENSP00000445332.1:p.Val31Met
ENST00000585626.1:n.191G>A
ENST00000585901.6:c.124G>A	ENSP00000468608.1:p.Val42Met
ENST00000586946.1:c.*9G>A	ENSP00000465656.1:n.*9G>A
ENST00000587837.5:c.*9G>A	ENSP00000465081.1:n.*9G>A
ENST00000588439.1:n.268G>A
ENST00000589517.1:c.124G>A	ENSP00000468447.1:p.Val42Met
NM_001173514.1:c.91G>A	NP_001166985.1:p.Val31Met
NM_001173515.1:c.91G>A	NP_001166986.1:p.Val31Met
NM_003332.3:c.124G>A , LRG_607t1:c.124G>A	NP_003323.1:p.Val42Met
NM_198125.2:c.124G>A	NP_937758.1:p.Val42Met
NR_033390.1:n.165G>A
NM_001173514.2:c.91G>A	NP_001166985.1:p.Val31Met
NM_001173515.2:c.91G>A	NP_001166986.1:p.Val31Met
NM_003332.4:c.124G>A MANE Select	NP_003323.1:p.Val42Met
NM_198125.3:c.124G>A	NP_937758.1:p.Val42Met
NR_033390.2:n.151G>A