Canonical Allele Identifier: CA339681825

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780251-C-T
• MyVariant Identifiers: chr1:g.33245852C>T (hg19) ; chr1:g.32780251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780251C>T , CM000663.2:g.32780251C>T	GRCh38
NC_000001.10:g.33245852C>T , CM000663.1:g.33245852C>T	GRCh37
NC_000001.9:g.33018439C>T	NCBI36
NG_008408.1:g.42782G>A , LRG_273:g.42782G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1021G>A	ENSP00000502019.1:p.Glu341Lys
ENST00000373477.9:c.1168G>A MANE Select	ENSP00000362576.4:p.Glu390Lys
ENST00000674629.1:c.*716G>A	ENSP00000502470.1:n.*716G>A
ENST00000674654.1:c.*1128G>A	ENSP00000501729.1:n.*1128G>A
ENST00000675785.1:c.1021G>A	ENSP00000502019.1:p.Glu341Lys
ENST00000676297.1:c.*1342G>A	ENSP00000501596.1:n.*1342G>A
ENST00000373477.8:c.1168G>A	ENSP00000362576.4:p.Glu390Lys
ENST00000469100.5:n.1084G>A
ENST00000478828.1:n.635G>A
ENST00000487404.5:n.1478G>A
ENST00000490826.1:n.461G>A
ENST00000616261.1:c.1167G>A	ENSP00000484192.1:p.Ter389=
NM_003680.3:c.1168G>A , LRG_273t1:c.1168G>A	NP_003671.1:p.Glu390Lys
XM_011542347.1:c.538G>A	XP_011540649.1:p.Glu180Lys
XM_011542348.1:c.538G>A	XP_011540650.1:p.Glu180Lys
XM_011542347.2:c.538G>A	XP_011540649.1:p.Glu180Lys
XM_017002651.2:c.538G>A	XP_016858140.1:p.Glu180Lys
NM_003680.4:c.1168G>A MANE Select	NP_003671.1:p.Glu390Lys