Canonical Allele Identifier: CA339681685

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780215-C-A
• MyVariant Identifiers: chr1:g.33245816C>A (hg19) ; chr1:g.32780215C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780215C>A , CM000663.2:g.32780215C>A	GRCh38
NC_000001.10:g.33245816C>A , CM000663.1:g.33245816C>A	GRCh37
NC_000001.9:g.33018403C>A	NCBI36
NG_008408.1:g.42818G>T , LRG_273:g.42818G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1057G>T	ENSP00000502019.1:p.Val353Leu
ENST00000373477.9:c.1204G>T MANE Select	ENSP00000362576.4:p.Val402Leu
ENST00000674629.1:c.*752G>T	ENSP00000502470.1:n.*752G>T
ENST00000674654.1:c.*1164G>T	ENSP00000501729.1:n.*1164G>T
ENST00000675785.1:c.1057G>T	ENSP00000502019.1:p.Val353Leu
ENST00000676297.1:c.*1378G>T	ENSP00000501596.1:n.*1378G>T
ENST00000373477.8:c.1204G>T	ENSP00000362576.4:p.Val402Leu
ENST00000469100.5:n.1120G>T
ENST00000478828.1:n.671G>T
ENST00000487404.5:n.1514G>T
ENST00000490826.1:n.497G>T
NM_003680.3:c.1204G>T , LRG_273t1:c.1204G>T	NP_003671.1:p.Val402Leu
XM_011542347.1:c.574G>T	XP_011540649.1:p.Val192Leu
XM_011542348.1:c.574G>T	XP_011540650.1:p.Val192Leu
XM_011542347.2:c.574G>T	XP_011540649.1:p.Val192Leu
XM_017002651.2:c.574G>T	XP_016858140.1:p.Val192Leu
NM_003680.4:c.1204G>T MANE Select	NP_003671.1:p.Val402Leu