Canonical Allele Identifier: CA339687700

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33276596C>A (hg19) ; chr1:g.32810995C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32810995C>A , CM000663.2:g.32810995C>A	GRCh38
NC_000001.10:g.33276596C>A , CM000663.1:g.33276596C>A	GRCh37
NC_000001.9:g.33049183C>A	NCBI36
NG_008408.1:g.12038G>T , LRG_273:g.12038G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.58-229G>T	ENSP00000502019.1:n.58-229G>T
ENST00000373477.9:c.120G>T MANE Select	ENSP00000362576.4:p.Trp40Cys
ENST00000481895.6:c.120G>T	ENSP00000502016.1:p.Trp40Cys
ENST00000616261.2:c.120G>T	ENSP00000484192.2:p.Trp40Cys
ENST00000674629.1:c.58-4384G>T	ENSP00000502470.1:n.58-4384G>T
ENST00000674654.1:c.120G>T	ENSP00000501729.1:p.Trp40Cys
ENST00000675785.1:c.58-229G>T	ENSP00000502019.1:n.58-229G>T
ENST00000676297.1:c.120G>T	ENSP00000501596.1:p.Trp40Cys
ENST00000373477.8:c.120G>T	ENSP00000362576.4:p.Trp40Cys
ENST00000472692.1:n.653G>T
ENST00000481895.5:n.193G>T
ENST00000616261.1:c.120G>T	ENSP00000484192.1:p.Trp40Cys
NM_003680.3:c.120G>T , LRG_273t1:c.120G>T	NP_003671.1:p.Trp40Cys
XM_011542347.1:c.-250-4384G>T	XP_011540649.1:n.-250-4384G>T
XM_011542348.1:c.-297-4384G>T	XP_011540650.1:n.-297-4384G>T
XM_011542347.2:c.-250-4384G>T	XP_011540649.1:n.-250-4384G>T
XM_017002651.2:c.-558G>T	XP_016858140.1:n.-558G>T
NM_003680.4:c.120G>T MANE Select	NP_003671.1:p.Trp40Cys