Canonical Allele Identifier: CA339681858

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780258-C-T
• MyVariant Identifiers: chr1:g.33245859C>T (hg19) ; chr1:g.32780258C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780258C>T , CM000663.2:g.32780258C>T	GRCh38
NC_000001.10:g.33245859C>T , CM000663.1:g.33245859C>T	GRCh37
NC_000001.9:g.33018446C>T	NCBI36
NG_008408.1:g.42775G>A , LRG_273:g.42775G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1014G>A	ENSP00000502019.1:p.Leu338=
ENST00000373477.9:c.1161G>A MANE Select	ENSP00000362576.4:p.Leu387=
ENST00000674629.1:c.*709G>A	ENSP00000502470.1:n.*709G>A
ENST00000674654.1:c.*1121G>A	ENSP00000501729.1:n.*1121G>A
ENST00000675785.1:c.1014G>A	ENSP00000502019.1:p.Leu338=
ENST00000676297.1:c.*1335G>A	ENSP00000501596.1:n.*1335G>A
ENST00000373477.8:c.1161G>A	ENSP00000362576.4:p.Leu387=
ENST00000469100.5:n.1077G>A
ENST00000478828.1:n.628G>A
ENST00000487404.5:n.1471G>A
ENST00000490826.1:n.454G>A
ENST00000616261.1:c.1160G>A	ENSP00000484192.1:p.Cys387Tyr
NM_003680.3:c.1161G>A , LRG_273t1:c.1161G>A	NP_003671.1:p.Leu387=
XM_011542347.1:c.531G>A	XP_011540649.1:p.Leu177=
XM_011542348.1:c.531G>A	XP_011540650.1:p.Leu177=
XM_011542347.2:c.531G>A	XP_011540649.1:p.Leu177=
XM_017002651.2:c.531G>A	XP_016858140.1:p.Leu177=
NM_003680.4:c.1161G>A MANE Select	NP_003671.1:p.Leu387=