Canonical Allele Identifier: CA339681246

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245715C>G (hg19) ; chr1:g.32780114C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780114C>G , CM000663.2:g.32780114C>G	GRCh38
NC_000001.10:g.33245715C>G , CM000663.1:g.33245715C>G	GRCh37
NC_000001.9:g.33018302C>G	NCBI36
NG_008408.1:g.42919G>C , LRG_273:g.42919G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1158G>C	ENSP00000502019.1:p.Glu386Asp
ENST00000373477.9:c.1305G>C MANE Select	ENSP00000362576.4:p.Glu435Asp
ENST00000674629.1:c.*853G>C	ENSP00000502470.1:n.*853G>C
ENST00000674654.1:c.*1265G>C	ENSP00000501729.1:n.*1265G>C
ENST00000675785.1:c.1158G>C	ENSP00000502019.1:p.Glu386Asp
ENST00000676297.1:c.*1479G>C	ENSP00000501596.1:n.*1479G>C
ENST00000373477.8:c.1305G>C	ENSP00000362576.4:p.Glu435Asp
ENST00000469100.5:n.1221G>C
ENST00000478828.1:n.772G>C
ENST00000487404.5:n.1615G>C
ENST00000490826.1:n.598G>C
NM_003680.3:c.1305G>C , LRG_273t1:c.1305G>C	NP_003671.1:p.Glu435Asp
XM_011542347.1:c.675G>C	XP_011540649.1:p.Glu225Asp
XM_011542348.1:c.675G>C	XP_011540650.1:p.Glu225Asp
XM_011542347.2:c.675G>C	XP_011540649.1:p.Glu225Asp
XM_017002651.2:c.675G>C	XP_016858140.1:p.Glu225Asp
NM_003680.4:c.1305G>C MANE Select	NP_003671.1:p.Glu435Asp