Canonical Allele Identifier: CA396557094

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70255822G>C , CM000678.2:g.70255822G>C	GRCh38
NC_000016.9:g.70289725G>C , CM000678.1:g.70289725G>C	GRCh37
NC_000016.8:g.68847226G>C	NCBI36
NG_023191.1:g.38688C>G , LRG_359:g.38688C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2192C>G MANE Select	NP_001596.2:p.Ser731Trp
ENST00000261772.13:c.2192C>G MANE Select	ENSP00000261772.8:p.Ser731Trp
NM_001605.2:c.2192C>G , LRG_359t1:c.2192C>G	NP_001596.2:p.Ser731Trp
ENST00000261772.12:c.2192C>G	ENSP00000261772.7:p.Ser731Trp
ENST00000564359.5:n.503C>G
ENST00000564359.6:n.2165C>G
ENST00000565361.2:c.537C>G
ENST00000565361.3:c.2192C>G	ENSP00000455360.3:p.Ser731Trp
ENST00000569825.1:n.198C>G
ENST00000674512.1:c.2171C>G	ENSP00000501613.1:p.Ser724Trp
ENST00000674652.1:c.*1981C>G	ENSP00000502620.1:n.*1981C>G
ENST00000674691.1:c.2192C>G	ENSP00000502247.1:p.Ser731Trp
ENST00000674768.1:c.*447C>G	ENSP00000501679.1:n.*447C>G
ENST00000674811.1:c.*385C>G	ENSP00000502055.1:n.*385C>G
ENST00000674848.1:n.2241C>G
ENST00000674962.1:n.4546C>G
ENST00000674963.1:c.2192C>G	ENSP00000501924.1:p.Ser731Trp
ENST00000675035.1:c.2172C>G	ENSP00000502712.1:p.Leu724=
ENST00000675045.1:c.2219C>G	ENSP00000502014.1:p.Ser740Trp
ENST00000675120.1:c.*502C>G	ENSP00000502823.1:n.*502C>G
ENST00000675133.1:c.2165C>G	ENSP00000502230.1:p.Ser722Trp
ENST00000675270.1:n.2327C>G
ENST00000675297.1:c.*544C>G	ENSP00000502753.1:n.*544C>G
ENST00000675371.1:c.2007C>G	ENSP00000502645.1:p.Leu669=
ENST00000675403.1:n.3112C>G
ENST00000675569.1:c.*1426C>G	ENSP00000502534.1:n.*1426C>G
ENST00000675643.1:c.2192C>G	ENSP00000502797.1:p.Ser731Trp
ENST00000675691.1:c.2063C>G	ENSP00000502196.1:p.Ser688Trp
ENST00000675751.1:c.*1219C>G	ENSP00000502277.1:n.*1219C>G
ENST00000675853.1:c.2192C>G	ENSP00000502367.1:p.Ser731Trp
ENST00000675917.1:n.2489C>G
ENST00000675953.1:c.2108C>G	ENSP00000502321.1:p.Ser703Trp
ENST00000675986.1:n.2350C>G
ENST00000676004.1:c.*2191C>G	ENSP00000502765.1:n.*2191C>G
ENST00000676040.1:c.*1426C>G	ENSP00000502108.1:n.*1426C>G
ENST00000676065.1:n.509C>G
ENST00000676168.1:c.2007C>G	ENSP00000502479.1:p.Leu669=
ENST00000676209.1:c.*544C>G	ENSP00000502052.1:n.*544C>G
ENST00000676211.1:c.*1219C>G	ENSP00000502726.1:n.*1219C>G
ENST00000676212.1:c.2192C>G	ENSP00000501853.1:p.Ser731Trp
ENST00000676247.1:c.*544C>G	ENSP00000502699.1:n.*544C>G
XR_933220.1:n.2158C>G
XR_933220.3:n.2117C>G