Canonical Allele Identifier: CA496200026

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70252787G>A , CM000678.2:g.70252787G>A	GRCh38
NC_000016.9:g.70286690G>A , CM000678.1:g.70286690G>A	GRCh37
NC_000016.8:g.68844191G>A	NCBI36
NG_023191.1:g.41723C>T , LRG_359:g.41723C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.2841C>T MANE Select	NP_001596.2:p.Cys947=
ENST00000261772.13:c.2841C>T MANE Select	ENSP00000261772.8:p.Cys947=
NM_001605.2:c.2841C>T , LRG_359t1:c.2841C>T	NP_001596.2:p.Cys947=
ENST00000261772.12:c.2841C>T	ENSP00000261772.7:p.Cys947=
ENST00000565361.3:c.2934C>T	ENSP00000455360.3:p.Cys978=
ENST00000569825.2:n.1286C>T
ENST00000674512.1:c.2820C>T	ENSP00000501613.1:p.Cys940=
ENST00000674652.1:c.*2630C>T	ENSP00000502620.1:n.*2630C>T
ENST00000674691.1:c.2841C>T	ENSP00000502247.1:p.Cys947=
ENST00000674768.1:c.*1428C>T	ENSP00000501679.1:n.*1428C>T
ENST00000674811.1:c.*1034C>T	ENSP00000502055.1:n.*1034C>T
ENST00000674848.1:n.3222C>T
ENST00000674962.1:n.5527C>T
ENST00000674963.1:c.2841C>T	ENSP00000501924.1:p.Cys947=
ENST00000675035.1:c.*451C>T	ENSP00000502712.1:n.*451C>T
ENST00000675045.1:c.2868C>T	ENSP00000502014.1:p.Cys956=
ENST00000675120.1:c.*1151C>T	ENSP00000502823.1:n.*1151C>T
ENST00000675133.1:c.2814C>T	ENSP00000502230.1:p.Cys938=
ENST00000675270.1:n.2976C>T
ENST00000675297.1:c.*2107C>T	ENSP00000502753.1:n.*2107C>T
ENST00000675371.1:c.*783C>T	ENSP00000502645.1:n.*783C>T
ENST00000675403.1:n.3761C>T
ENST00000675569.1:c.*2075C>T	ENSP00000502534.1:n.*2075C>T
ENST00000675588.1:n.1588C>T
ENST00000675643.1:c.2841C>T	ENSP00000502797.1:p.Cys947=
ENST00000675691.1:c.2712C>T	ENSP00000502196.1:p.Cys904=
ENST00000675751.1:c.*2200C>T	ENSP00000502277.1:n.*2200C>T
ENST00000675853.1:c.2889C>T	ENSP00000502367.1:p.Cys963=
ENST00000675917.1:n.3138C>T
ENST00000675953.1:c.2757C>T	ENSP00000502321.1:p.Cys919=
ENST00000675986.1:n.3331C>T
ENST00000676004.1:c.*2840C>T	ENSP00000502765.1:n.*2840C>T
ENST00000676040.1:c.*2075C>T	ENSP00000502108.1:n.*2075C>T
ENST00000676168.1:c.*451C>T	ENSP00000502479.1:n.*451C>T
ENST00000676209.1:c.*1193C>T	ENSP00000502052.1:n.*1193C>T
ENST00000676211.1:c.*1868C>T	ENSP00000502726.1:n.*1868C>T
ENST00000676212.1:c.*530C>T	ENSP00000501853.1:n.*530C>T
ENST00000676247.1:c.*1525C>T	ENSP00000502699.1:n.*1525C>T
XR_933220.1:n.2807C>T
XR_933220.3:n.2766C>T