Canonical Allele Identifier: CA744862
Community Standard Title: NM_003680.4(YARS1):c.1549A>G (p.Ile517Val)
Gene: YARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.32776019T>C , CM000663.2:g.32776019T>C GRCh38
NC_000001.10:g.33241620T>C , CM000663.1:g.33241620T>C GRCh37
NC_000001.9:g.33014207T>C NCBI36
NG_008408.1:g.47014A>G , LRG_273:g.47014A>G

Transcript Alleles

HGVS Amino-acid Change
NM_003680.4:c.1549A>G MANE Select NP_003671.1:p.Ile517Val
ENST00000373477.9:c.1549A>G MANE Select ENSP00000362576.4:p.Ile517Val
NM_003680.3:c.1549A>G , LRG_273t1:c.1549A>G NP_003671.1:p.Ile517Val
ENST00000373477.8:c.1549A>G ENSP00000362576.4:p.Ile517Val
ENST00000469100.5:n.1465A>G
ENST00000478828.1:n.1016A>G
ENST00000487404.5:n.1859A>G
ENST00000490826.1:n.1403A>G
ENST00000674629.1:c.*1097A>G ENSP00000502470.1:n.*1097A>G
ENST00000674654.1:c.*1509A>G ENSP00000501729.1:n.*1509A>G
ENST00000675785.1:c.1402A>G ENSP00000502019.1:p.Ile468Val
ENST00000675785.2:c.1402A>G ENSP00000502019.1:p.Ile468Val
ENST00000676297.1:c.*1723A>G ENSP00000501596.1:n.*1723A>G
XM_011542347.1:c.919A>G XP_011540649.1:p.Ile307Val
XM_011542347.2:c.919A>G XP_011540649.1:p.Ile307Val
XM_011542348.1:c.919A>G XP_011540650.1:p.Ile307Val
XM_017002651.2:c.919A>G XP_016858140.1:p.Ile307Val