Canonical Allele Identifier: CA417065923

Gene: YARS1

Linked Data

• ClinVar Variation Id: 2811120
• ClinVar RCV Id: RCV003616287
• dbSNP Id: rs201652203
• MyVariant Identifiers: chr1:g.33248102G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32782501G>T , CM000663.2:g.32782501G>T	GRCh38
NC_000001.10:g.33248102G>T , CM000663.1:g.33248102G>T	GRCh37
NC_000001.9:g.33020689G>T	NCBI36
NG_008408.1:g.40532C>A , LRG_273:g.40532C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.798C>A	ENSP00000502019.1:p.Val266=
ENST00000373477.9:c.945C>A MANE Select	ENSP00000362576.4:p.Val315=
ENST00000674629.1:c.*493C>A	ENSP00000502470.1:n.*493C>A
ENST00000674654.1:c.*905C>A	ENSP00000501729.1:n.*905C>A
ENST00000675785.1:c.798C>A	ENSP00000502019.1:p.Val266=
ENST00000676297.1:c.*1119C>A	ENSP00000501596.1:n.*1119C>A
ENST00000373477.8:c.945C>A	ENSP00000362576.4:p.Val315=
ENST00000478828.1:n.412C>A
ENST00000487404.5:n.1255C>A
ENST00000616261.1:c.945C>A	ENSP00000484192.1:p.Val315=
NM_003680.3:c.945C>A , LRG_273t1:c.945C>A	NP_003671.1:p.Val315=
XM_011542347.1:c.315C>A	XP_011540649.1:p.Val105=
XM_011542348.1:c.315C>A	XP_011540650.1:p.Val105=
XM_011542347.2:c.315C>A	XP_011540649.1:p.Val105=
XM_017002651.2:c.315C>A	XP_016858140.1:p.Val105=
NM_003680.4:c.945C>A MANE Select	NP_003671.1:p.Val315=