Canonical Allele Identifier: CA496200347

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70253283C>A , CM000678.2:g.70253283C>A	GRCh38
NC_000016.9:g.70287186C>A , CM000678.1:g.70287186C>A	GRCh37
NC_000016.8:g.68844687C>A	NCBI36
NG_023191.1:g.41227G>T , LRG_359:g.41227G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2706G>T MANE Select	ENSP00000261772.8:p.Leu902=
ENST00000565361.3:c.2799G>T	ENSP00000455360.3:p.Leu933=
ENST00000569825.2:n.1151G>T
ENST00000674512.1:c.2685G>T	ENSP00000501613.1:p.Leu895=
ENST00000674652.1:c.*2495G>T	ENSP00000502620.1:n.*2495G>T
ENST00000674691.1:c.2706G>T	ENSP00000502247.1:p.Leu902=
ENST00000674768.1:c.*1293G>T	ENSP00000501679.1:n.*1293G>T
ENST00000674811.1:c.*899G>T	ENSP00000502055.1:n.*899G>T
ENST00000674848.1:n.3087G>T
ENST00000674962.1:n.5392G>T
ENST00000674963.1:c.2706G>T	ENSP00000501924.1:p.Leu902=
ENST00000675035.1:c.*316G>T	ENSP00000502712.1:n.*316G>T
ENST00000675045.1:c.2733G>T	ENSP00000502014.1:p.Leu911=
ENST00000675120.1:c.*1016G>T	ENSP00000502823.1:n.*1016G>T
ENST00000675133.1:c.2679G>T	ENSP00000502230.1:p.Leu893=
ENST00000675270.1:n.2841G>T
ENST00000675297.1:c.*1972G>T	ENSP00000502753.1:n.*1972G>T
ENST00000675371.1:c.*648G>T	ENSP00000502645.1:n.*648G>T
ENST00000675403.1:n.3626G>T
ENST00000675569.1:c.*1940G>T	ENSP00000502534.1:n.*1940G>T
ENST00000675588.1:n.1453G>T
ENST00000675643.1:c.2706G>T	ENSP00000502797.1:p.Leu902=
ENST00000675691.1:c.2577G>T	ENSP00000502196.1:p.Leu859=
ENST00000675751.1:c.*2065G>T	ENSP00000502277.1:n.*2065G>T
ENST00000675853.1:c.2754G>T	ENSP00000502367.1:p.Leu918=
ENST00000675917.1:n.3003G>T
ENST00000675953.1:c.2622G>T	ENSP00000502321.1:p.Leu874=
ENST00000675986.1:n.3196G>T
ENST00000676004.1:c.*2705G>T	ENSP00000502765.1:n.*2705G>T
ENST00000676040.1:c.*1940G>T	ENSP00000502108.1:n.*1940G>T
ENST00000676168.1:c.*316G>T	ENSP00000502479.1:n.*316G>T
ENST00000676209.1:c.*1058G>T	ENSP00000502052.1:n.*1058G>T
ENST00000676211.1:c.*1733G>T	ENSP00000502726.1:n.*1733G>T
ENST00000676212.1:c.*395G>T	ENSP00000501853.1:n.*395G>T
ENST00000676247.1:c.*1390G>T	ENSP00000502699.1:n.*1390G>T
ENST00000261772.12:c.2706G>T	ENSP00000261772.7:p.Leu902=
NM_001605.2:c.2706G>T , LRG_359t1:c.2706G>T	NP_001596.2:p.Leu902=
XR_933220.1:n.2672G>T
XR_933220.3:n.2631G>T
NM_001605.3:c.2706G>T MANE Select	NP_001596.2:p.Leu902=