Canonical Allele Identifier: CA339681309

Gene: YARS1

Linked Data

• dbSNP Id: rs149620809
• MyVariant Identifiers: chr1:g.33245729T>C (hg19) ; chr1:g.32780128T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780128T>C , CM000663.2:g.32780128T>C	GRCh38
NC_000001.10:g.33245729T>C , CM000663.1:g.33245729T>C	GRCh37
NC_000001.9:g.33018316T>C	NCBI36
NG_008408.1:g.42905A>G , LRG_273:g.42905A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1144A>G	ENSP00000502019.1:p.Met382Val
ENST00000373477.9:c.1291A>G MANE Select	ENSP00000362576.4:p.Met431Val
ENST00000674629.1:c.*839A>G	ENSP00000502470.1:n.*839A>G
ENST00000674654.1:c.*1251A>G	ENSP00000501729.1:n.*1251A>G
ENST00000675785.1:c.1144A>G	ENSP00000502019.1:p.Met382Val
ENST00000676297.1:c.*1465A>G	ENSP00000501596.1:n.*1465A>G
ENST00000373477.8:c.1291A>G	ENSP00000362576.4:p.Met431Val
ENST00000469100.5:n.1207A>G
ENST00000478828.1:n.758A>G
ENST00000487404.5:n.1601A>G
ENST00000490826.1:n.584A>G
NM_003680.3:c.1291A>G , LRG_273t1:c.1291A>G	NP_003671.1:p.Met431Val
XM_011542347.1:c.661A>G	XP_011540649.1:p.Met221Val
XM_011542348.1:c.661A>G	XP_011540650.1:p.Met221Val
XM_011542347.2:c.661A>G	XP_011540649.1:p.Met221Val
XM_017002651.2:c.661A>G	XP_016858140.1:p.Met221Val
NM_003680.4:c.1291A>G MANE Select	NP_003671.1:p.Met431Val