Canonical Allele Identifier: CA744945

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1681488
• ClinVar RCV Id: RCV002239049
• dbSNP Id: rs774750132
• ExAC: 1:33245777 G / T
• gnomAD v2: 1-33245777-G-T
• gnomAD v4: 1-32780176-G-T
• MyVariant Identifiers: chr1:g.33245777G>T (hg19) ; chr1:g.32780176G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780176G>T , CM000663.2:g.32780176G>T	GRCh38
NC_000001.10:g.33245777G>T , CM000663.1:g.33245777G>T	GRCh37
NC_000001.9:g.33018364G>T	NCBI36
NG_008408.1:g.42857C>A , LRG_273:g.42857C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1096C>A	ENSP00000502019.1:p.Leu366Met
ENST00000373477.9:c.1243C>A MANE Select	ENSP00000362576.4:p.Leu415Met
ENST00000674629.1:c.*791C>A	ENSP00000502470.1:n.*791C>A
ENST00000674654.1:c.*1203C>A	ENSP00000501729.1:n.*1203C>A
ENST00000675785.1:c.1096C>A	ENSP00000502019.1:p.Leu366Met
ENST00000676297.1:c.*1417C>A	ENSP00000501596.1:n.*1417C>A
ENST00000373477.8:c.1243C>A	ENSP00000362576.4:p.Leu415Met
ENST00000469100.5:n.1159C>A
ENST00000478828.1:n.710C>A
ENST00000487404.5:n.1553C>A
ENST00000490826.1:n.536C>A
NM_003680.3:c.1243C>A , LRG_273t1:c.1243C>A	NP_003671.1:p.Leu415Met
XM_011542347.1:c.613C>A	XP_011540649.1:p.Leu205Met
XM_011542348.1:c.613C>A	XP_011540650.1:p.Leu205Met
XM_011542347.2:c.613C>A	XP_011540649.1:p.Leu205Met
XM_017002651.2:c.613C>A	XP_016858140.1:p.Leu205Met
NM_003680.4:c.1243C>A MANE Select	NP_003671.1:p.Leu415Met