Canonical Allele Identifier: CA396557750

Gene: AARS1

Linked Data

• ClinVar Variation Id: 523443
• ClinVar RCV Id: RCV000626810
• dbSNP Id: rs1555539904
• MyVariant Identifiers: chr16:g.70292059A>G (hg19) ; chr16:g.70258156A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258156A>G , CM000678.2:g.70258156A>G	GRCh38
NC_000016.9:g.70292059A>G , CM000678.1:g.70292059A>G	GRCh37
NC_000016.8:g.68849560A>G	NCBI36
NG_023191.1:g.36354T>C , LRG_359:g.36354T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261772.13:c.2054T>C MANE Select	ENSP00000261772.8:p.Val685Ala
ENST00000564359.6:n.2150+824T>C
ENST00000565361.3:c.2054T>C	ENSP00000455360.3:p.Val685Ala
ENST00000674512.1:c.2033T>C	ENSP00000501613.1:p.Val678Ala
ENST00000674652.1:c.*1843T>C	ENSP00000502620.1:n.*1843T>C
ENST00000674691.1:c.2054T>C	ENSP00000502247.1:p.Val685Ala
ENST00000674768.1:c.*309T>C	ENSP00000501679.1:n.*309T>C
ENST00000674811.1:c.*247T>C	ENSP00000502055.1:n.*247T>C
ENST00000674848.1:n.2103T>C
ENST00000674962.1:n.2212T>C
ENST00000674963.1:c.2054T>C	ENSP00000501924.1:p.Val685Ala
ENST00000675035.1:c.2054T>C	ENSP00000502712.1:p.Val685Ala
ENST00000675045.1:c.2081T>C	ENSP00000502014.1:p.Val694Ala
ENST00000675120.1:c.*364T>C	ENSP00000502823.1:n.*364T>C
ENST00000675133.1:c.2027T>C	ENSP00000502230.1:p.Val676Ala
ENST00000675270.1:n.2189T>C
ENST00000675297.1:c.*406T>C	ENSP00000502753.1:n.*406T>C
ENST00000675371.1:c.1992+824T>C	ENSP00000502645.1:n.1992+824T>C
ENST00000675403.1:n.2974T>C
ENST00000675569.1:c.*1288T>C	ENSP00000502534.1:n.*1288T>C
ENST00000675643.1:c.2054T>C	ENSP00000502797.1:p.Val685Ala
ENST00000675691.1:c.1925T>C	ENSP00000502196.1:p.Val642Ala
ENST00000675751.1:c.*1081T>C	ENSP00000502277.1:n.*1081T>C
ENST00000675853.1:c.2054T>C	ENSP00000502367.1:p.Val685Ala
ENST00000675917.1:n.2351T>C
ENST00000675953.1:c.1970T>C	ENSP00000502321.1:p.Val657Ala
ENST00000675986.1:n.2212T>C
ENST00000676004.1:c.*2053T>C	ENSP00000502765.1:n.*2053T>C
ENST00000676040.1:c.*1288T>C	ENSP00000502108.1:n.*1288T>C
ENST00000676168.1:c.1992+824T>C	ENSP00000502479.1:n.1992+824T>C
ENST00000676209.1:c.*406T>C	ENSP00000502052.1:n.*406T>C
ENST00000676211.1:c.*1081T>C	ENSP00000502726.1:n.*1081T>C
ENST00000676212.1:c.2054T>C	ENSP00000501853.1:p.Val685Ala
ENST00000676247.1:c.*406T>C	ENSP00000502699.1:n.*406T>C
ENST00000261772.12:c.2054T>C	ENSP00000261772.7:p.Val685Ala
ENST00000564359.5:n.488+824T>C
ENST00000565361.2:c.399T>C
ENST00000569825.1:n.60T>C
NM_001605.2:c.2054T>C , LRG_359t1:c.2054T>C	NP_001596.2:p.Val685Ala
XR_933220.1:n.2143+824T>C
XR_933220.3:n.2102+824T>C
NM_001605.3:c.2054T>C MANE Select	NP_001596.2:p.Val685Ala