Canonical Allele Identifier: CA417064401

Gene: YARS1

Linked Data

• ClinVar Variation Id: 759057
• ClinVar RCV Id: RCV001418433
• dbSNP Id: rs763636325
• gnomAD v4: 1-32780192-G-A
• COSMIC: COSM908346
• MyVariant Identifiers: chr1:g.33245793G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780192G>A , CM000663.2:g.32780192G>A	GRCh38
NC_000001.10:g.33245793G>A , CM000663.1:g.33245793G>A	GRCh37
NC_000001.9:g.33018380G>A	NCBI36
NG_008408.1:g.42841C>T , LRG_273:g.42841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1080C>T	ENSP00000502019.1:p.Phe360=
ENST00000373477.9:c.1227C>T MANE Select	ENSP00000362576.4:p.Phe409=
ENST00000674629.1:c.*775C>T	ENSP00000502470.1:n.*775C>T
ENST00000674654.1:c.*1187C>T	ENSP00000501729.1:n.*1187C>T
ENST00000675785.1:c.1080C>T	ENSP00000502019.1:p.Phe360=
ENST00000676297.1:c.*1401C>T	ENSP00000501596.1:n.*1401C>T
ENST00000373477.8:c.1227C>T	ENSP00000362576.4:p.Phe409=
ENST00000469100.5:n.1143C>T
ENST00000478828.1:n.694C>T
ENST00000487404.5:n.1537C>T
ENST00000490826.1:n.520C>T
NM_003680.3:c.1227C>T , LRG_273t1:c.1227C>T	NP_003671.1:p.Phe409=
XM_011542347.1:c.597C>T	XP_011540649.1:p.Phe199=
XM_011542348.1:c.597C>T	XP_011540650.1:p.Phe199=
XM_011542347.2:c.597C>T	XP_011540649.1:p.Phe199=
XM_017002651.2:c.597C>T	XP_016858140.1:p.Phe199=
NM_003680.4:c.1227C>T MANE Select	NP_003671.1:p.Phe409=