Canonical Allele Identifier: CA744873

Gene: YARS1

Linked Data

• ClinVar Variation Id: 464874
• ClinVar RCV Id: RCV000526485
• dbSNP Id: rs768160751
• ExAC: 1:33241682 T / C
• gnomAD v2: 1-33241682-T-C
• gnomAD v3: 1-32776081-T-C
• gnomAD v4: 1-32776081-T-C
• MyVariant Identifiers: chr1:g.33241682T>C (hg19) ; chr1:g.32776081T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32776081T>C , CM000663.2:g.32776081T>C	GRCh38
NC_000001.10:g.33241682T>C , CM000663.1:g.33241682T>C	GRCh37
NC_000001.9:g.33014269T>C	NCBI36
NG_008408.1:g.46952A>G , LRG_273:g.46952A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.1340A>G	ENSP00000502019.1:p.Lys447Arg
ENST00000373477.9:c.1487A>G MANE Select	ENSP00000362576.4:p.Lys496Arg
ENST00000674629.1:c.*1035A>G	ENSP00000502470.1:n.*1035A>G
ENST00000674654.1:c.*1447A>G	ENSP00000501729.1:n.*1447A>G
ENST00000675785.1:c.1340A>G	ENSP00000502019.1:p.Lys447Arg
ENST00000676297.1:c.*1661A>G	ENSP00000501596.1:n.*1661A>G
ENST00000373477.8:c.1487A>G	ENSP00000362576.4:p.Lys496Arg
ENST00000469100.5:n.1403A>G
ENST00000478828.1:n.954A>G
ENST00000487404.5:n.1797A>G
ENST00000490826.1:n.1341A>G
NM_003680.3:c.1487A>G , LRG_273t1:c.1487A>G	NP_003671.1:p.Lys496Arg
XM_011542347.1:c.857A>G	XP_011540649.1:p.Lys286Arg
XM_011542348.1:c.857A>G	XP_011540650.1:p.Lys286Arg
XM_011542347.2:c.857A>G	XP_011540649.1:p.Lys286Arg
XM_017002651.2:c.857A>G	XP_016858140.1:p.Lys286Arg
NM_003680.4:c.1487A>G MANE Select	NP_003671.1:p.Lys496Arg