Canonical Allele Identifier: CA339681617

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245797T>G (hg19) ; chr1:g.32780196T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780196T>G , CM000663.2:g.32780196T>G	GRCh38
NC_000001.10:g.33245797T>G , CM000663.1:g.33245797T>G	GRCh37
NC_000001.9:g.33018384T>G	NCBI36
NG_008408.1:g.42837A>C , LRG_273:g.42837A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1076A>C	ENSP00000502019.1:p.Gln359Pro
ENST00000373477.9:c.1223A>C MANE Select	ENSP00000362576.4:p.Gln408Pro
ENST00000674629.1:c.*771A>C	ENSP00000502470.1:n.*771A>C
ENST00000674654.1:c.*1183A>C	ENSP00000501729.1:n.*1183A>C
ENST00000675785.1:c.1076A>C	ENSP00000502019.1:p.Gln359Pro
ENST00000676297.1:c.*1397A>C	ENSP00000501596.1:n.*1397A>C
ENST00000373477.8:c.1223A>C	ENSP00000362576.4:p.Gln408Pro
ENST00000469100.5:n.1139A>C
ENST00000478828.1:n.690A>C
ENST00000487404.5:n.1533A>C
ENST00000490826.1:n.516A>C
NM_003680.3:c.1223A>C , LRG_273t1:c.1223A>C	NP_003671.1:p.Gln408Pro
XM_011542347.1:c.593A>C	XP_011540649.1:p.Gln198Pro
XM_011542348.1:c.593A>C	XP_011540650.1:p.Gln198Pro
XM_011542347.2:c.593A>C	XP_011540649.1:p.Gln198Pro
XM_017002651.2:c.593A>C	XP_016858140.1:p.Gln198Pro
NM_003680.4:c.1223A>C MANE Select	NP_003671.1:p.Gln408Pro