Canonical Allele Identifier: CA336038

Gene: YARS1

Linked Data

• ClinVar Variation Id: 216574
• ClinVar RCV Id: RCV000195932
• dbSNP Id: rs863224717
• gnomAD v2: 1-33245840-C-T
• gnomAD v3: 1-32780239-C-T
• gnomAD v4: 1-32780239-C-T
• MyVariant Identifiers: chr1:g.33245840C>T (hg19) ; chr1:g.32780239C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780239C>T , CM000663.2:g.32780239C>T	GRCh38
NC_000001.10:g.33245840C>T , CM000663.1:g.33245840C>T	GRCh37
NC_000001.9:g.33018427C>T	NCBI36
NG_008408.1:g.42794G>A , LRG_273:g.42794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1033G>A	ENSP00000502019.1:p.Val345Met
ENST00000373477.9:c.1180G>A MANE Select	ENSP00000362576.4:p.Val394Met
ENST00000674629.1:c.*728G>A	ENSP00000502470.1:n.*728G>A
ENST00000674654.1:c.*1140G>A	ENSP00000501729.1:n.*1140G>A
ENST00000675785.1:c.1033G>A	ENSP00000502019.1:p.Val345Met
ENST00000676297.1:c.*1354G>A	ENSP00000501596.1:n.*1354G>A
ENST00000373477.8:c.1180G>A	ENSP00000362576.4:p.Val394Met
ENST00000469100.5:n.1096G>A
ENST00000478828.1:n.647G>A
ENST00000487404.5:n.1490G>A
ENST00000490826.1:n.473G>A
NM_003680.3:c.1180G>A , LRG_273t1:c.1180G>A	NP_003671.1:p.Val394Met
XM_011542347.1:c.550G>A	XP_011540649.1:p.Val184Met
XM_011542348.1:c.550G>A	XP_011540650.1:p.Val184Met
XM_011542347.2:c.550G>A	XP_011540649.1:p.Val184Met
XM_017002651.2:c.550G>A	XP_016858140.1:p.Val184Met
NM_003680.4:c.1180G>A MANE Select	NP_003671.1:p.Val394Met