Canonical Allele Identifier: CA339681877

Gene: YARS1

Linked Data

• ClinVar Variation Id: 2638613
• ClinVar RCV Id: RCV003406289
• MyVariant Identifiers: chr1:g.33245863C>A (hg19) ; chr1:g.32780262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780262C>A , CM000663.2:g.32780262C>A	GRCh38
NC_000001.10:g.33245863C>A , CM000663.1:g.33245863C>A	GRCh37
NC_000001.9:g.33018450C>A	NCBI36
NG_008408.1:g.42771G>T , LRG_273:g.42771G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1010G>T	ENSP00000502019.1:p.Ser337Ile
ENST00000373477.9:c.1157G>T MANE Select	ENSP00000362576.4:p.Ser386Ile
ENST00000674629.1:c.*705G>T	ENSP00000502470.1:n.*705G>T
ENST00000674654.1:c.*1117G>T	ENSP00000501729.1:n.*1117G>T
ENST00000675785.1:c.1010G>T	ENSP00000502019.1:p.Ser337Ile
ENST00000676297.1:c.*1331G>T	ENSP00000501596.1:n.*1331G>T
ENST00000373477.8:c.1157G>T	ENSP00000362576.4:p.Ser386Ile
ENST00000469100.5:n.1073G>T
ENST00000478828.1:n.624G>T
ENST00000487404.5:n.1467G>T
ENST00000490826.1:n.450G>T
ENST00000616261.1:c.1156G>T	ENSP00000484192.1:p.Ala386Ser
NM_003680.3:c.1157G>T , LRG_273t1:c.1157G>T	NP_003671.1:p.Ser386Ile
XM_011542347.1:c.527G>T	XP_011540649.1:p.Ser176Ile
XM_011542348.1:c.527G>T	XP_011540650.1:p.Ser176Ile
XM_011542347.2:c.527G>T	XP_011540649.1:p.Ser176Ile
XM_017002651.2:c.527G>T	XP_016858140.1:p.Ser176Ile
NM_003680.4:c.1157G>T MANE Select	NP_003671.1:p.Ser386Ile