Canonical Allele Identifier: CA744939

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1147851
• ClinVar RCV Id: RCV001487490
• dbSNP Id: rs775335977
• ExAC: 1:33245757 C / A
• gnomAD v2: 1-33245757-C-A
• gnomAD v4: 1-32780156-C-A
• MyVariant Identifiers: chr1:g.33245757C>A (hg19) ; chr1:g.32780156C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780156C>A , CM000663.2:g.32780156C>A	GRCh38
NC_000001.10:g.33245757C>A , CM000663.1:g.33245757C>A	GRCh37
NC_000001.9:g.33018344C>A	NCBI36
NG_008408.1:g.42877G>T , LRG_273:g.42877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1116G>T	ENSP00000502019.1:p.Val372=
ENST00000373477.9:c.1263G>T MANE Select	ENSP00000362576.4:p.Val421=
ENST00000674629.1:c.*811G>T	ENSP00000502470.1:n.*811G>T
ENST00000674654.1:c.*1223G>T	ENSP00000501729.1:n.*1223G>T
ENST00000675785.1:c.1116G>T	ENSP00000502019.1:p.Val372=
ENST00000676297.1:c.*1437G>T	ENSP00000501596.1:n.*1437G>T
ENST00000373477.8:c.1263G>T	ENSP00000362576.4:p.Val421=
ENST00000469100.5:n.1179G>T
ENST00000478828.1:n.730G>T
ENST00000487404.5:n.1573G>T
ENST00000490826.1:n.556G>T
NM_003680.3:c.1263G>T , LRG_273t1:c.1263G>T	NP_003671.1:p.Val421=
XM_011542347.1:c.633G>T	XP_011540649.1:p.Val211=
XM_011542348.1:c.633G>T	XP_011540650.1:p.Val211=
XM_011542347.2:c.633G>T	XP_011540649.1:p.Val211=
XM_017002651.2:c.633G>T	XP_016858140.1:p.Val211=
NM_003680.4:c.1263G>T MANE Select	NP_003671.1:p.Val421=