Canonical Allele Identifier: CA339681950

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245878T>A (hg19) ; chr1:g.32780277T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780277T>A , CM000663.2:g.32780277T>A	GRCh38
NC_000001.10:g.33245878T>A , CM000663.1:g.33245878T>A	GRCh37
NC_000001.9:g.33018465T>A	NCBI36
NG_008408.1:g.42756A>T , LRG_273:g.42756A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.995A>T	ENSP00000502019.1:p.His332Leu
ENST00000373477.9:c.1142A>T MANE Select	ENSP00000362576.4:p.His381Leu
ENST00000674629.1:c.*690A>T	ENSP00000502470.1:n.*690A>T
ENST00000674654.1:c.*1102A>T	ENSP00000501729.1:n.*1102A>T
ENST00000675785.1:c.995A>T	ENSP00000502019.1:p.His332Leu
ENST00000676297.1:c.*1316A>T	ENSP00000501596.1:n.*1316A>T
ENST00000373477.8:c.1142A>T	ENSP00000362576.4:p.His381Leu
ENST00000469100.5:n.1058A>T
ENST00000478828.1:n.609A>T
ENST00000487404.5:n.1452A>T
ENST00000490826.1:n.435A>T
ENST00000616261.1:c.1141A>T	ENSP00000484192.1:p.Thr381Ser
NM_003680.3:c.1142A>T , LRG_273t1:c.1142A>T	NP_003671.1:p.His381Leu
XM_011542347.1:c.512A>T	XP_011540649.1:p.His171Leu
XM_011542348.1:c.512A>T	XP_011540650.1:p.His171Leu
XM_011542347.2:c.512A>T	XP_011540649.1:p.His171Leu
XM_017002651.2:c.512A>T	XP_016858140.1:p.His171Leu
NM_003680.4:c.1142A>T MANE Select	NP_003671.1:p.His381Leu