Canonical Allele Identifier: CA396557617

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291993A>T (hg19) ; chr16:g.70258090A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258090A>T , CM000678.2:g.70258090A>T	GRCh38
NC_000016.9:g.70291993A>T , CM000678.1:g.70291993A>T	GRCh37
NC_000016.8:g.68849494A>T	NCBI36
NG_023191.1:g.36420T>A , LRG_359:g.36420T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2120T>A MANE Select	ENSP00000261772.8:p.Leu707Gln
ENST00000564359.6:n.2150+890T>A
ENST00000565361.3:c.2120T>A	ENSP00000455360.3:p.Leu707Gln
ENST00000674512.1:c.2099T>A	ENSP00000501613.1:p.Leu700Gln
ENST00000674652.1:c.*1909T>A	ENSP00000502620.1:n.*1909T>A
ENST00000674691.1:c.2120T>A	ENSP00000502247.1:p.Leu707Gln
ENST00000674768.1:c.*375T>A	ENSP00000501679.1:n.*375T>A
ENST00000674811.1:c.*313T>A	ENSP00000502055.1:n.*313T>A
ENST00000674848.1:n.2169T>A
ENST00000674962.1:n.2278T>A
ENST00000674963.1:c.2120T>A	ENSP00000501924.1:p.Leu707Gln
ENST00000675035.1:c.2120T>A	ENSP00000502712.1:p.Leu707Gln
ENST00000675045.1:c.2147T>A	ENSP00000502014.1:p.Leu716Gln
ENST00000675120.1:c.*430T>A	ENSP00000502823.1:n.*430T>A
ENST00000675133.1:c.2093T>A	ENSP00000502230.1:p.Leu698Gln
ENST00000675270.1:n.2255T>A
ENST00000675297.1:c.*472T>A	ENSP00000502753.1:n.*472T>A
ENST00000675371.1:c.1992+890T>A	ENSP00000502645.1:n.1992+890T>A
ENST00000675403.1:n.3040T>A
ENST00000675569.1:c.*1354T>A	ENSP00000502534.1:n.*1354T>A
ENST00000675643.1:c.2120T>A	ENSP00000502797.1:p.Leu707Gln
ENST00000675691.1:c.1991T>A	ENSP00000502196.1:p.Leu664Gln
ENST00000675751.1:c.*1147T>A	ENSP00000502277.1:n.*1147T>A
ENST00000675853.1:c.2120T>A	ENSP00000502367.1:p.Leu707Gln
ENST00000675917.1:n.2417T>A
ENST00000675953.1:c.2036T>A	ENSP00000502321.1:p.Leu679Gln
ENST00000675986.1:n.2278T>A
ENST00000676004.1:c.*2119T>A	ENSP00000502765.1:n.*2119T>A
ENST00000676040.1:c.*1354T>A	ENSP00000502108.1:n.*1354T>A
ENST00000676168.1:c.1992+890T>A	ENSP00000502479.1:n.1992+890T>A
ENST00000676209.1:c.*472T>A	ENSP00000502052.1:n.*472T>A
ENST00000676211.1:c.*1147T>A	ENSP00000502726.1:n.*1147T>A
ENST00000676212.1:c.2120T>A	ENSP00000501853.1:p.Leu707Gln
ENST00000676247.1:c.*472T>A	ENSP00000502699.1:n.*472T>A
ENST00000261772.12:c.2120T>A	ENSP00000261772.7:p.Leu707Gln
ENST00000564359.5:n.488+890T>A
ENST00000565361.2:c.465T>A
ENST00000569825.1:n.126T>A
NM_001605.2:c.2120T>A , LRG_359t1:c.2120T>A	NP_001596.2:p.Leu707Gln
XR_933220.1:n.2143+890T>A
XR_933220.3:n.2102+890T>A
NM_001605.3:c.2120T>A MANE Select	NP_001596.2:p.Leu707Gln