Canonical Allele Identifier: CA339683586

Gene: YARS1

Linked Data

• MyVariant Identifiers: chr1:g.33248103A>G (hg19) ; chr1:g.32782502A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.32782502A>G , CM000663.2:g.32782502A>G	GRCh38
NC_000001.10:g.33248103A>G , CM000663.1:g.33248103A>G	GRCh37
NC_000001.9:g.33020690A>G	NCBI36
NG_008408.1:g.40531T>C , LRG_273:g.40531T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000675785.2:c.797T>C	ENSP00000502019.1:p.Val266Ala
ENST00000373477.9:c.944T>C MANE Select	ENSP00000362576.4:p.Val315Ala
ENST00000674629.1:c.*492T>C	ENSP00000502470.1:n.*492T>C
ENST00000674654.1:c.*904T>C	ENSP00000501729.1:n.*904T>C
ENST00000675785.1:c.797T>C	ENSP00000502019.1:p.Val266Ala
ENST00000676297.1:c.*1118T>C	ENSP00000501596.1:n.*1118T>C
ENST00000373477.8:c.944T>C	ENSP00000362576.4:p.Val315Ala
ENST00000478828.1:n.411T>C
ENST00000487404.5:n.1254T>C
ENST00000616261.1:c.944T>C	ENSP00000484192.1:p.Val315Ala
NM_003680.3:c.944T>C , LRG_273t1:c.944T>C	NP_003671.1:p.Val315Ala
XM_011542347.1:c.314T>C	XP_011540649.1:p.Val105Ala
XM_011542348.1:c.314T>C	XP_011540650.1:p.Val105Ala
XM_011542347.2:c.314T>C	XP_011540649.1:p.Val105Ala
XM_017002651.2:c.314T>C	XP_016858140.1:p.Val105Ala
NM_003680.4:c.944T>C MANE Select	NP_003671.1:p.Val315Ala