Canonical Allele Identifier: CA339681597

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33245793G>C (hg19) ; chr1:g.32780192G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675785.2:c.1080C>G	ENSP00000502019.1:p.Phe360Leu
ENST00000373477.9:c.1227C>G MANE Select	ENSP00000362576.4:p.Phe409Leu
ENST00000674629.1:c.*775C>G	ENSP00000502470.1:n.*775C>G
ENST00000674654.1:c.*1187C>G	ENSP00000501729.1:n.*1187C>G
ENST00000675785.1:c.1080C>G	ENSP00000502019.1:p.Phe360Leu
ENST00000676297.1:c.*1401C>G	ENSP00000501596.1:n.*1401C>G
ENST00000373477.8:c.1227C>G	ENSP00000362576.4:p.Phe409Leu
ENST00000469100.5:n.1143C>G
ENST00000478828.1:n.694C>G
ENST00000487404.5:n.1537C>G
ENST00000490826.1:n.520C>G
NM_003680.3:c.1227C>G , LRG_273t1:c.1227C>G	NP_003671.1:p.Phe409Leu
XM_011542347.1:c.597C>G	XP_011540649.1:p.Phe199Leu
XM_011542348.1:c.597C>G	XP_011540650.1:p.Phe199Leu
XM_011542347.2:c.597C>G	XP_011540649.1:p.Phe199Leu
XM_017002651.2:c.597C>G	XP_016858140.1:p.Phe199Leu
NM_003680.4:c.1227C>G MANE Select	NP_003671.1:p.Phe409Leu