Canonical Allele Identifier: CA8140662

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70259180G>A , CM000678.2:g.70259180G>A	GRCh38
NC_000016.9:g.70293083G>A , CM000678.1:g.70293083G>A	GRCh37
NC_000016.8:g.68850584G>A	NCBI36
NG_023191.1:g.35330C>T , LRG_359:g.35330C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.1792C>T MANE Select	NP_001596.2:p.Arg598Ter
ENST00000261772.13:c.1792C>T MANE Select	ENSP00000261772.8:p.Arg598Ter
NM_001605.2:c.1792C>T , LRG_359t1:c.1792C>T	NP_001596.2:p.Arg598Ter
ENST00000261772.12:c.1792C>T	ENSP00000261772.7:p.Arg598Ter
ENST00000564359.5:n.288C>T
ENST00000564359.6:n.1950C>T
ENST00000565361.2:c.137C>T
ENST00000565361.3:c.1792C>T	ENSP00000455360.3:p.Arg598Ter
ENST00000567490.1:n.377C>T
ENST00000569790.2:n.384C>T
ENST00000674512.1:c.1771C>T	ENSP00000501613.1:p.Arg591Ter
ENST00000674652.1:c.*819C>T	ENSP00000502620.1:n.*819C>T
ENST00000674691.1:c.1792C>T	ENSP00000502247.1:p.Arg598Ter
ENST00000674768.1:c.*47C>T	ENSP00000501679.1:n.*47C>T
ENST00000674811.1:c.969C>T	ENSP00000502055.1:p.Asp323=
ENST00000674848.1:n.1841C>T
ENST00000674962.1:n.1950C>T
ENST00000674963.1:c.1792C>T	ENSP00000501924.1:p.Arg598Ter
ENST00000675035.1:c.1792C>T	ENSP00000502712.1:p.Arg598Ter
ENST00000675045.1:c.1792C>T	ENSP00000502014.1:p.Arg598Ter
ENST00000675120.1:c.*102C>T	ENSP00000502823.1:n.*102C>T
ENST00000675133.1:c.1765C>T	ENSP00000502230.1:p.Arg589Ter
ENST00000675270.1:n.1927C>T
ENST00000675297.1:c.*144C>T	ENSP00000502753.1:n.*144C>T
ENST00000675371.1:c.1792C>T	ENSP00000502645.1:p.Arg598Ter
ENST00000675403.1:n.1950C>T
ENST00000675569.1:c.*1026C>T	ENSP00000502534.1:n.*1026C>T
ENST00000675643.1:c.1792C>T	ENSP00000502797.1:p.Arg598Ter
ENST00000675691.1:c.1663C>T	ENSP00000502196.1:p.Arg555Ter
ENST00000675751.1:c.*819C>T	ENSP00000502277.1:n.*819C>T
ENST00000675853.1:c.1792C>T	ENSP00000502367.1:p.Arg598Ter
ENST00000675917.1:n.2089C>T
ENST00000675953.1:c.1708C>T	ENSP00000502321.1:p.Arg570Ter
ENST00000675986.1:n.1950C>T
ENST00000676004.1:c.*1791C>T	ENSP00000502765.1:n.*1791C>T
ENST00000676040.1:c.*1026C>T	ENSP00000502108.1:n.*1026C>T
ENST00000676168.1:c.1792C>T	ENSP00000502479.1:p.Arg598Ter
ENST00000676209.1:c.*144C>T	ENSP00000502052.1:n.*144C>T
ENST00000676211.1:c.*819C>T	ENSP00000502726.1:n.*819C>T
ENST00000676212.1:c.1792C>T	ENSP00000501853.1:p.Arg598Ter
ENST00000676247.1:c.*144C>T	ENSP00000502699.1:n.*144C>T
XR_933220.1:n.1943C>T
XR_933220.3:n.1902C>T