Canonical Allele Identifier: CA339681891

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245867C>A (hg19) ; chr1:g.32780266C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780266C>A , CM000663.2:g.32780266C>A	GRCh38
NC_000001.10:g.33245867C>A , CM000663.1:g.33245867C>A	GRCh37
NC_000001.9:g.33018454C>A	NCBI36
NG_008408.1:g.42767G>T , LRG_273:g.42767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1006G>T	ENSP00000502019.1:p.Asp336Tyr
ENST00000373477.9:c.1153G>T MANE Select	ENSP00000362576.4:p.Asp385Tyr
ENST00000674629.1:c.*701G>T	ENSP00000502470.1:n.*701G>T
ENST00000674654.1:c.*1113G>T	ENSP00000501729.1:n.*1113G>T
ENST00000675785.1:c.1006G>T	ENSP00000502019.1:p.Asp336Tyr
ENST00000676297.1:c.*1327G>T	ENSP00000501596.1:n.*1327G>T
ENST00000373477.8:c.1153G>T	ENSP00000362576.4:p.Asp385Tyr
ENST00000469100.5:n.1069G>T
ENST00000478828.1:n.620G>T
ENST00000487404.5:n.1463G>T
ENST00000490826.1:n.446G>T
ENST00000616261.1:c.1152G>T	ENSP00000484192.1:p.Gln384His
NM_003680.3:c.1153G>T , LRG_273t1:c.1153G>T	NP_003671.1:p.Asp385Tyr
XM_011542347.1:c.523G>T	XP_011540649.1:p.Asp175Tyr
XM_011542348.1:c.523G>T	XP_011540650.1:p.Asp175Tyr
XM_011542347.2:c.523G>T	XP_011540649.1:p.Asp175Tyr
XM_017002651.2:c.523G>T	XP_016858140.1:p.Asp175Tyr
NM_003680.4:c.1153G>T MANE Select	NP_003671.1:p.Asp385Tyr