Canonical Allele Identifier: CA744962

Gene: YARS1

Linked Data

• ClinVar Variation Id: 1152809
• ClinVar RCV Id: RCV001494255
• dbSNP Id: rs759944936
• ExAC: 1:33245861 G / A
• gnomAD v2: 1-33245861-G-A
• gnomAD v3: 1-32780260-G-A
• gnomAD v4: 1-32780260-G-A
• MyVariant Identifiers: chr1:g.33245861G>A (hg19) ; chr1:g.32780260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780260G>A , CM000663.2:g.32780260G>A	GRCh38
NC_000001.10:g.33245861G>A , CM000663.1:g.33245861G>A	GRCh37
NC_000001.9:g.33018448G>A	NCBI36
NG_008408.1:g.42773C>T , LRG_273:g.42773C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1012C>T	ENSP00000502019.1:p.Leu338=
ENST00000373477.9:c.1159C>T MANE Select	ENSP00000362576.4:p.Leu387=
ENST00000674629.1:c.*707C>T	ENSP00000502470.1:n.*707C>T
ENST00000674654.1:c.*1119C>T	ENSP00000501729.1:n.*1119C>T
ENST00000675785.1:c.1012C>T	ENSP00000502019.1:p.Leu338=
ENST00000676297.1:c.*1333C>T	ENSP00000501596.1:n.*1333C>T
ENST00000373477.8:c.1159C>T	ENSP00000362576.4:p.Leu387=
ENST00000469100.5:n.1075C>T
ENST00000478828.1:n.626C>T
ENST00000487404.5:n.1469C>T
ENST00000490826.1:n.452C>T
ENST00000616261.1:c.1158C>T	ENSP00000484192.1:p.Ala386=
NM_003680.3:c.1159C>T , LRG_273t1:c.1159C>T	NP_003671.1:p.Leu387=
XM_011542347.1:c.529C>T	XP_011540649.1:p.Leu177=
XM_011542348.1:c.529C>T	XP_011540650.1:p.Leu177=
XM_011542347.2:c.529C>T	XP_011540649.1:p.Leu177=
XM_017002651.2:c.529C>T	XP_016858140.1:p.Leu177=
NM_003680.4:c.1159C>T MANE Select	NP_003671.1:p.Leu387=