Canonical Allele Identifier: CA2634034890

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258102-A-AC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258104dup , CM000678.2:g.70258104dup	GRCh38
NC_000016.9:g.70292007dup , CM000678.1:g.70292007dup	GRCh37
NC_000016.8:g.68849508dup	NCBI36
NG_023191.1:g.36407dup , LRG_359:g.36407dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2107dup MANE Select	ENSP00000261772.8:p.Val703GlyfsTer7
ENST00000564359.6:n.2150+877dup
ENST00000565361.3:c.2107dup	ENSP00000455360.3:p.Val703GlyfsTer7
ENST00000674512.1:c.2086dup	ENSP00000501613.1:p.Val696GlyfsTer7
ENST00000674652.1:c.*1896dup	ENSP00000502620.1:n.*1896dup
ENST00000674691.1:c.2107dup	ENSP00000502247.1:p.Val703GlyfsTer7
ENST00000674768.1:c.*362dup	ENSP00000501679.1:n.*362dup
ENST00000674811.1:c.*300dup	ENSP00000502055.1:n.*300dup
ENST00000674848.1:n.2156dup
ENST00000674962.1:n.2265dup
ENST00000674963.1:c.2107dup	ENSP00000501924.1:p.Val703GlyfsTer7
ENST00000675035.1:c.2107dup	ENSP00000502712.1:p.Val703GlyfsTer7
ENST00000675045.1:c.2134dup	ENSP00000502014.1:p.Val712GlyfsTer7
ENST00000675120.1:c.*417dup	ENSP00000502823.1:n.*417dup
ENST00000675133.1:c.2080dup	ENSP00000502230.1:p.Val694GlyfsTer7
ENST00000675270.1:n.2242dup
ENST00000675297.1:c.*459dup	ENSP00000502753.1:n.*459dup
ENST00000675371.1:c.1992+877dup	ENSP00000502645.1:n.1992+877dup
ENST00000675403.1:n.3027dup
ENST00000675569.1:c.*1341dup	ENSP00000502534.1:n.*1341dup
ENST00000675643.1:c.2107dup	ENSP00000502797.1:p.Val703GlyfsTer7
ENST00000675691.1:c.1978dup	ENSP00000502196.1:p.Val660GlyfsTer7
ENST00000675751.1:c.*1134dup	ENSP00000502277.1:n.*1134dup
ENST00000675853.1:c.2107dup	ENSP00000502367.1:p.Val703GlyfsTer7
ENST00000675917.1:n.2404dup
ENST00000675953.1:c.2023dup	ENSP00000502321.1:p.Val675GlyfsTer7
ENST00000675986.1:n.2265dup
ENST00000676004.1:c.*2106dup	ENSP00000502765.1:n.*2106dup
ENST00000676040.1:c.*1341dup	ENSP00000502108.1:n.*1341dup
ENST00000676168.1:c.1992+877dup	ENSP00000502479.1:n.1992+877dup
ENST00000676209.1:c.*459dup	ENSP00000502052.1:n.*459dup
ENST00000676211.1:c.*1134dup	ENSP00000502726.1:n.*1134dup
ENST00000676212.1:c.2107dup	ENSP00000501853.1:p.Val703GlyfsTer7
ENST00000676247.1:c.*459dup	ENSP00000502699.1:n.*459dup
ENST00000261772.12:c.2107dup	ENSP00000261772.7:p.Val703GlyfsTer7
ENST00000564359.5:n.488+877dup
ENST00000565361.2:c.452dup
ENST00000569825.1:n.113dup
NM_001605.2:c.2107dup , LRG_359t1:c.2107dup	NP_001596.2:p.Val703GlyfsTer7
XR_933220.1:n.2143+877dup
XR_933220.3:n.2102+877dup
NM_001605.3:c.2107dup MANE Select	NP_001596.2:p.Val703GlyfsTer7