Canonical Allele Identifier: CA744933

Gene: YARS1

Linked Data

• ClinVar Variation Id: 464873
• ClinVar RCV Id: RCV000597583 ; RCV001079016 ; RCV002461300 ; RCV003915550
• dbSNP Id: rs149620809
• ExAC: 1:33245729 T / A
• gnomAD v2: 1-33245729-T-A
• gnomAD v3: 1-32780128-T-A
• gnomAD v4: 1-32780128-T-A
• MyVariant Identifiers: chr1:g.33245729T>A (hg19) ; chr1:g.32780128T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780128T>A , CM000663.2:g.32780128T>A	GRCh38
NC_000001.10:g.33245729T>A , CM000663.1:g.33245729T>A	GRCh37
NC_000001.9:g.33018316T>A	NCBI36
NG_008408.1:g.42905A>T , LRG_273:g.42905A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1144A>T	ENSP00000502019.1:p.Met382Leu
ENST00000373477.9:c.1291A>T MANE Select	ENSP00000362576.4:p.Met431Leu
ENST00000674629.1:c.*839A>T	ENSP00000502470.1:n.*839A>T
ENST00000674654.1:c.*1251A>T	ENSP00000501729.1:n.*1251A>T
ENST00000675785.1:c.1144A>T	ENSP00000502019.1:p.Met382Leu
ENST00000676297.1:c.*1465A>T	ENSP00000501596.1:n.*1465A>T
ENST00000373477.8:c.1291A>T	ENSP00000362576.4:p.Met431Leu
ENST00000469100.5:n.1207A>T
ENST00000478828.1:n.758A>T
ENST00000487404.5:n.1601A>T
ENST00000490826.1:n.584A>T
NM_003680.3:c.1291A>T , LRG_273t1:c.1291A>T	NP_003671.1:p.Met431Leu
XM_011542347.1:c.661A>T	XP_011540649.1:p.Met221Leu
XM_011542348.1:c.661A>T	XP_011540650.1:p.Met221Leu
XM_011542347.2:c.661A>T	XP_011540649.1:p.Met221Leu
XM_017002651.2:c.661A>T	XP_016858140.1:p.Met221Leu
NM_003680.4:c.1291A>T MANE Select	NP_003671.1:p.Met431Leu