Canonical Allele Identifier: CA496202275

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70292061A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258158A>T , CM000678.2:g.70258158A>T	GRCh38
NC_000016.9:g.70292061A>T , CM000678.1:g.70292061A>T	GRCh37
NC_000016.8:g.68849562A>T	NCBI36
NG_023191.1:g.36352T>A , LRG_359:g.36352T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2052T>A MANE Select	ENSP00000261772.8:p.Ala684=
ENST00000564359.6:n.2150+822T>A
ENST00000565361.3:c.2052T>A	ENSP00000455360.3:p.Ala684=
ENST00000674512.1:c.2031T>A	ENSP00000501613.1:p.Ala677=
ENST00000674652.1:c.*1841T>A	ENSP00000502620.1:n.*1841T>A
ENST00000674691.1:c.2052T>A	ENSP00000502247.1:p.Ala684=
ENST00000674768.1:c.*307T>A	ENSP00000501679.1:n.*307T>A
ENST00000674811.1:c.*245T>A	ENSP00000502055.1:n.*245T>A
ENST00000674848.1:n.2101T>A
ENST00000674962.1:n.2210T>A
ENST00000674963.1:c.2052T>A	ENSP00000501924.1:p.Ala684=
ENST00000675035.1:c.2052T>A	ENSP00000502712.1:p.Ala684=
ENST00000675045.1:c.2079T>A	ENSP00000502014.1:p.Ala693=
ENST00000675120.1:c.*362T>A	ENSP00000502823.1:n.*362T>A
ENST00000675133.1:c.2025T>A	ENSP00000502230.1:p.Ala675=
ENST00000675270.1:n.2187T>A
ENST00000675297.1:c.*404T>A	ENSP00000502753.1:n.*404T>A
ENST00000675371.1:c.1992+822T>A	ENSP00000502645.1:n.1992+822T>A
ENST00000675403.1:n.2972T>A
ENST00000675569.1:c.*1286T>A	ENSP00000502534.1:n.*1286T>A
ENST00000675643.1:c.2052T>A	ENSP00000502797.1:p.Ala684=
ENST00000675691.1:c.1923T>A	ENSP00000502196.1:p.Ala641=
ENST00000675751.1:c.*1079T>A	ENSP00000502277.1:n.*1079T>A
ENST00000675853.1:c.2052T>A	ENSP00000502367.1:p.Ala684=
ENST00000675917.1:n.2349T>A
ENST00000675953.1:c.1968T>A	ENSP00000502321.1:p.Ala656=
ENST00000675986.1:n.2210T>A
ENST00000676004.1:c.*2051T>A	ENSP00000502765.1:n.*2051T>A
ENST00000676040.1:c.*1286T>A	ENSP00000502108.1:n.*1286T>A
ENST00000676168.1:c.1992+822T>A	ENSP00000502479.1:n.1992+822T>A
ENST00000676209.1:c.*404T>A	ENSP00000502052.1:n.*404T>A
ENST00000676211.1:c.*1079T>A	ENSP00000502726.1:n.*1079T>A
ENST00000676212.1:c.2052T>A	ENSP00000501853.1:p.Ala684=
ENST00000676247.1:c.*404T>A	ENSP00000502699.1:n.*404T>A
ENST00000261772.12:c.2052T>A	ENSP00000261772.7:p.Ala684=
ENST00000564359.5:n.488+822T>A
ENST00000565361.2:c.397T>A
ENST00000569825.1:n.58T>A
NM_001605.2:c.2052T>A , LRG_359t1:c.2052T>A	NP_001596.2:p.Ala684=
XR_933220.1:n.2143+822T>A
XR_933220.3:n.2102+822T>A
NM_001605.3:c.2052T>A MANE Select	NP_001596.2:p.Ala684=