Canonical Allele Identifier: CA658798627

Gene: AARS1

Linked Data

• ClinVar Variation Id: 504085
• ClinVar RCV Id: RCV000598928
• dbSNP Id: rs1555539158
• MyVariant Identifiers: chr16:g.70286660del (hg19) ; chr16:g.70252757del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252758del , CM000678.2:g.70252758del	GRCh38
NC_000016.9:g.70286661del , CM000678.1:g.70286661del	GRCh37
NC_000016.8:g.68844162del	NCBI36
NG_023191.1:g.41753del , LRG_359:g.41753del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2871del MANE Select	ENSP00000261772.8:p.Phe958SerfsTer9
ENST00000565361.3:c.2964del	ENSP00000455360.3:p.Phe989SerfsTer9
ENST00000569825.2:n.1316del
ENST00000674512.1:c.2850del	ENSP00000501613.1:p.Phe951SerfsTer9
ENST00000674652.1:c.*2660del	ENSP00000502620.1:n.*2660del
ENST00000674691.1:c.2871del	ENSP00000502247.1:p.Phe958SerfsTer9
ENST00000674768.1:c.*1458del	ENSP00000501679.1:n.*1458del
ENST00000674811.1:c.*1064del	ENSP00000502055.1:n.*1064del
ENST00000674848.1:n.3252del
ENST00000674962.1:n.5557del
ENST00000674963.1:c.2871del	ENSP00000501924.1:p.Phe958SerfsTer9
ENST00000675035.1:c.*481del	ENSP00000502712.1:n.*481del
ENST00000675045.1:c.2898del	ENSP00000502014.1:p.Phe967SerfsTer9
ENST00000675120.1:c.*1181del	ENSP00000502823.1:n.*1181del
ENST00000675133.1:c.2844del	ENSP00000502230.1:p.Phe949SerfsTer9
ENST00000675270.1:n.3006del
ENST00000675297.1:c.*2137del	ENSP00000502753.1:n.*2137del
ENST00000675371.1:c.*813del	ENSP00000502645.1:n.*813del
ENST00000675403.1:n.3791del
ENST00000675569.1:c.*2105del	ENSP00000502534.1:n.*2105del
ENST00000675588.1:n.1618del
ENST00000675643.1:c.2871del	ENSP00000502797.1:p.Phe958SerfsTer9
ENST00000675691.1:c.2742del	ENSP00000502196.1:p.Phe915SerfsTer9
ENST00000675751.1:c.*2230del	ENSP00000502277.1:n.*2230del
ENST00000675853.1:c.2919del	ENSP00000502367.1:p.Phe974SerfsTer9
ENST00000675917.1:n.3168del
ENST00000675953.1:c.2787del	ENSP00000502321.1:p.Phe930SerfsTer9
ENST00000675986.1:n.3361del
ENST00000676004.1:c.*2870del	ENSP00000502765.1:n.*2870del
ENST00000676040.1:c.*2105del	ENSP00000502108.1:n.*2105del
ENST00000676168.1:c.*481del	ENSP00000502479.1:n.*481del
ENST00000676209.1:c.*1223del	ENSP00000502052.1:n.*1223del
ENST00000676211.1:c.*1898del	ENSP00000502726.1:n.*1898del
ENST00000676212.1:c.*560del	ENSP00000501853.1:n.*560del
ENST00000676247.1:c.*1555del	ENSP00000502699.1:n.*1555del
ENST00000261772.12:c.2871del	ENSP00000261772.7:p.Phe958SerfsTer9
NM_001605.2:c.2871del , LRG_359t1:c.2871del	NP_001596.2:p.Phe958SerfsTer9
XR_933220.1:n.2837del
XR_933220.3:n.2796del
NM_001605.3:c.2871del MANE Select	NP_001596.2:p.Phe958SerfsTer9