Canonical Allele Identifier: CA339681938

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245876G>A (hg19) ; chr1:g.32780275G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32780275G>A , CM000663.2:g.32780275G>A	GRCh38
NC_000001.10:g.33245876G>A , CM000663.1:g.33245876G>A	GRCh37
NC_000001.9:g.33018463G>A	NCBI36
NG_008408.1:g.42758C>T , LRG_273:g.42758C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.997C>T	ENSP00000502019.1:p.Pro333Ser
ENST00000373477.9:c.1144C>T MANE Select	ENSP00000362576.4:p.Pro382Ser
ENST00000674629.1:c.*692C>T	ENSP00000502470.1:n.*692C>T
ENST00000674654.1:c.*1104C>T	ENSP00000501729.1:n.*1104C>T
ENST00000675785.1:c.997C>T	ENSP00000502019.1:p.Pro333Ser
ENST00000676297.1:c.*1318C>T	ENSP00000501596.1:n.*1318C>T
ENST00000373477.8:c.1144C>T	ENSP00000362576.4:p.Pro382Ser
ENST00000469100.5:n.1060C>T
ENST00000478828.1:n.611C>T
ENST00000487404.5:n.1454C>T
ENST00000490826.1:n.437C>T
ENST00000616261.1:c.1143C>T	ENSP00000484192.1:p.Thr381=
NM_003680.3:c.1144C>T , LRG_273t1:c.1144C>T	NP_003671.1:p.Pro382Ser
XM_011542347.1:c.514C>T	XP_011540649.1:p.Pro172Ser
XM_011542348.1:c.514C>T	XP_011540650.1:p.Pro172Ser
XM_011542347.2:c.514C>T	XP_011540649.1:p.Pro172Ser
XM_017002651.2:c.514C>T	XP_016858140.1:p.Pro172Ser
NM_003680.4:c.1144C>T MANE Select	NP_003671.1:p.Pro382Ser