Canonical Allele Identifier: CA2644702505

Gene: YARS1

Linked Data

• gnomAD v4: 1-32780204-G-GCCGCTCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780207_32780213dup , CM000663.2:g.32780207_32780213dup	GRCh38
NC_000001.10:g.33245808_33245814dup , CM000663.1:g.33245808_33245814dup	GRCh37
NC_000001.9:g.33018395_33018401dup	NCBI36
NG_008408.1:g.42822_42828dup , LRG_273:g.42822_42828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1061_1067dup	ENSP00000502019.1:p.Leu357GlufsTer?
ENST00000373477.9:c.1208_1214dup MANE Select	ENSP00000362576.4:p.Leu406GlufsTer?
ENST00000674629.1:c.*756_*762dup	ENSP00000502470.1:n.*756_*762dup
ENST00000674654.1:c.*1168_*1174dup	ENSP00000501729.1:n.*1168_*1174dup
ENST00000675785.1:c.1061_1067dup	ENSP00000502019.1:p.Leu357GlufsTer?
ENST00000676297.1:c.*1382_*1388dup	ENSP00000501596.1:n.*1382_*1388dup
ENST00000373477.8:c.1208_1214dup	ENSP00000362576.4:p.Leu406GlufsTer?
ENST00000469100.5:n.1124_1130dup
ENST00000478828.1:n.675_681dup
ENST00000487404.5:n.1518_1524dup
ENST00000490826.1:n.501_507dup
NM_003680.3:c.1208_1214dup , LRG_273t1:c.1208_1214dup	NP_003671.1:p.Leu406GlufsTer?
XM_011542347.1:c.578_584dup	XP_011540649.1:p.Leu196GlufsTer?
XM_011542348.1:c.578_584dup	XP_011540650.1:p.Leu196GlufsTer?
XM_011542347.2:c.578_584dup	XP_011540649.1:p.Leu196GlufsTer?
XM_017002651.2:c.578_584dup	XP_016858140.1:p.Leu196GlufsTer?
NM_003680.4:c.1208_1214dup MANE Select	NP_003671.1:p.Leu406GlufsTer?