Canonical Allele Identifier: CA417063647

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245694A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780093A>G , CM000663.2:g.32780093A>G	GRCh38
NC_000001.10:g.33245694A>G , CM000663.1:g.33245694A>G	GRCh37
NC_000001.9:g.33018281A>G	NCBI36
NG_008408.1:g.42940T>C , LRG_273:g.42940T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1179T>C	ENSP00000502019.1:p.Cys393=
ENST00000373477.9:c.1326T>C MANE Select	ENSP00000362576.4:p.Cys442=
ENST00000674629.1:c.*874T>C	ENSP00000502470.1:n.*874T>C
ENST00000674654.1:c.*1286T>C	ENSP00000501729.1:n.*1286T>C
ENST00000675785.1:c.1179T>C	ENSP00000502019.1:p.Cys393=
ENST00000676297.1:c.*1500T>C	ENSP00000501596.1:n.*1500T>C
ENST00000373477.8:c.1326T>C	ENSP00000362576.4:p.Cys442=
ENST00000469100.5:n.1242T>C
ENST00000478828.1:n.793T>C
ENST00000487404.5:n.1636T>C
ENST00000490826.1:n.619T>C
NM_003680.3:c.1326T>C , LRG_273t1:c.1326T>C	NP_003671.1:p.Cys442=
XM_011542347.1:c.696T>C	XP_011540649.1:p.Cys232=
XM_011542348.1:c.696T>C	XP_011540650.1:p.Cys232=
XM_011542347.2:c.696T>C	XP_011540649.1:p.Cys232=
XM_017002651.2:c.696T>C	XP_016858140.1:p.Cys232=
NM_003680.4:c.1326T>C MANE Select	NP_003671.1:p.Cys442=