Canonical Allele Identifier: CA745117

Gene: YARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32787011C>G , CM000663.2:g.32787011C>G	GRCh38
NC_000001.10:g.33252612C>G , CM000663.1:g.33252612C>G	GRCh37
NC_000001.9:g.33025199C>G	NCBI36
NG_008408.1:g.36022G>C , LRG_273:g.36022G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003680.4:c.749G>C MANE Select	NP_003671.1:p.Cys250Ser
ENST00000373477.9:c.749G>C MANE Select	ENSP00000362576.4:p.Cys250Ser
NM_003680.3:c.749G>C , LRG_273t1:c.749G>C	NP_003671.1:p.Cys250Ser
ENST00000373477.8:c.749G>C	ENSP00000362576.4:p.Cys250Ser
ENST00000466052.1:n.657G>C
ENST00000481895.5:n.869G>C
ENST00000481895.6:c.*824G>C	ENSP00000502016.1:n.*824G>C
ENST00000616261.1:c.749G>C	ENSP00000484192.1:p.Cys250Ser
ENST00000616261.2:c.*118G>C	ENSP00000484192.2:n.*118G>C
ENST00000674629.1:c.*297G>C	ENSP00000502470.1:n.*297G>C
ENST00000674654.1:c.*217G>C	ENSP00000501729.1:n.*217G>C
ENST00000675785.1:c.602G>C	ENSP00000502019.1:p.Cys201Ser
ENST00000675785.2:c.602G>C	ENSP00000502019.1:p.Cys201Ser
ENST00000676297.1:c.*431G>C	ENSP00000501596.1:n.*431G>C
XM_011542347.1:c.119G>C	XP_011540649.1:p.Cys40Ser
XM_011542347.2:c.119G>C	XP_011540649.1:p.Cys40Ser
XM_011542348.1:c.119G>C	XP_011540650.1:p.Cys40Ser
XM_017002651.2:c.119G>C	XP_016858140.1:p.Cys40Ser