Canonical Allele Identifier: CA339681831

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245854A>C (hg19) ; chr1:g.32780253A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780253A>C , CM000663.2:g.32780253A>C	GRCh38
NC_000001.10:g.33245854A>C , CM000663.1:g.33245854A>C	GRCh37
NC_000001.9:g.33018441A>C	NCBI36
NG_008408.1:g.42780T>G , LRG_273:g.42780T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1019T>G	ENSP00000502019.1:p.Val340Gly
ENST00000373477.9:c.1166T>G MANE Select	ENSP00000362576.4:p.Val389Gly
ENST00000674629.1:c.*714T>G	ENSP00000502470.1:n.*714T>G
ENST00000674654.1:c.*1126T>G	ENSP00000501729.1:n.*1126T>G
ENST00000675785.1:c.1019T>G	ENSP00000502019.1:p.Val340Gly
ENST00000676297.1:c.*1340T>G	ENSP00000501596.1:n.*1340T>G
ENST00000373477.8:c.1166T>G	ENSP00000362576.4:p.Val389Gly
ENST00000469100.5:n.1082T>G
ENST00000478828.1:n.633T>G
ENST00000487404.5:n.1476T>G
ENST00000490826.1:n.459T>G
ENST00000616261.1:c.1165T>G	ENSP00000484192.1:p.Ter389Glu
NM_003680.3:c.1166T>G , LRG_273t1:c.1166T>G	NP_003671.1:p.Val389Gly
XM_011542347.1:c.536T>G	XP_011540649.1:p.Val179Gly
XM_011542348.1:c.536T>G	XP_011540650.1:p.Val179Gly
XM_011542347.2:c.536T>G	XP_011540649.1:p.Val179Gly
XM_017002651.2:c.536T>G	XP_016858140.1:p.Val179Gly
NM_003680.4:c.1166T>G MANE Select	NP_003671.1:p.Val389Gly