Canonical Allele Identifier: CA339681917

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245872T>A (hg19) ; chr1:g.32780271T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780271T>A , CM000663.2:g.32780271T>A	GRCh38
NC_000001.10:g.33245872T>A , CM000663.1:g.33245872T>A	GRCh37
NC_000001.9:g.33018459T>A	NCBI36
NG_008408.1:g.42762A>T , LRG_273:g.42762A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1001A>T	ENSP00000502019.1:p.Asp334Val
ENST00000373477.9:c.1148A>T MANE Select	ENSP00000362576.4:p.Asp383Val
ENST00000674629.1:c.*696A>T	ENSP00000502470.1:n.*696A>T
ENST00000674654.1:c.*1108A>T	ENSP00000501729.1:n.*1108A>T
ENST00000675785.1:c.1001A>T	ENSP00000502019.1:p.Asp334Val
ENST00000676297.1:c.*1322A>T	ENSP00000501596.1:n.*1322A>T
ENST00000373477.8:c.1148A>T	ENSP00000362576.4:p.Asp383Val
ENST00000469100.5:n.1064A>T
ENST00000478828.1:n.615A>T
ENST00000487404.5:n.1458A>T
ENST00000490826.1:n.441A>T
ENST00000616261.1:c.1147A>T	ENSP00000484192.1:p.Met383Leu
NM_003680.3:c.1148A>T , LRG_273t1:c.1148A>T	NP_003671.1:p.Asp383Val
XM_011542347.1:c.518A>T	XP_011540649.1:p.Asp173Val
XM_011542348.1:c.518A>T	XP_011540650.1:p.Asp173Val
XM_011542347.2:c.518A>T	XP_011540649.1:p.Asp173Val
XM_017002651.2:c.518A>T	XP_016858140.1:p.Asp173Val
NM_003680.4:c.1148A>T MANE Select	NP_003671.1:p.Asp383Val