Canonical Allele Identifier: CA396558313

Gene: AARS1

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70259149G>A , CM000678.2:g.70259149G>A	GRCh38
NC_000016.9:g.70293052G>A , CM000678.1:g.70293052G>A	GRCh37
NC_000016.8:g.68850553G>A	NCBI36
NG_023191.1:g.35361C>T , LRG_359:g.35361C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001605.3:c.1823C>T MANE Select	NP_001596.2:p.Thr608Met
ENST00000261772.13:c.1823C>T MANE Select	ENSP00000261772.8:p.Thr608Met
NM_001605.2:c.1823C>T , LRG_359t1:c.1823C>T	NP_001596.2:p.Thr608Met
ENST00000261772.12:c.1823C>T	ENSP00000261772.7:p.Thr608Met
ENST00000564359.5:n.319C>T
ENST00000564359.6:n.1981C>T
ENST00000565361.2:c.168C>T
ENST00000565361.3:c.1823C>T	ENSP00000455360.3:p.Thr608Met
ENST00000567490.1:n.408C>T
ENST00000569790.2:n.415C>T
ENST00000674512.1:c.1802C>T	ENSP00000501613.1:p.Thr601Met
ENST00000674652.1:c.*850C>T	ENSP00000502620.1:n.*850C>T
ENST00000674691.1:c.1823C>T	ENSP00000502247.1:p.Thr608Met
ENST00000674768.1:c.*78C>T	ENSP00000501679.1:n.*78C>T
ENST00000674811.1:c.*16C>T	ENSP00000502055.1:n.*16C>T
ENST00000674848.1:n.1872C>T
ENST00000674962.1:n.1981C>T
ENST00000674963.1:c.1823C>T	ENSP00000501924.1:p.Thr608Met
ENST00000675035.1:c.1823C>T	ENSP00000502712.1:p.Thr608Met
ENST00000675045.1:c.1823C>T	ENSP00000502014.1:p.Thr608Met
ENST00000675120.1:c.*133C>T	ENSP00000502823.1:n.*133C>T
ENST00000675133.1:c.1796C>T	ENSP00000502230.1:p.Thr599Met
ENST00000675270.1:n.1958C>T
ENST00000675297.1:c.*175C>T	ENSP00000502753.1:n.*175C>T
ENST00000675371.1:c.1823C>T	ENSP00000502645.1:p.Thr608Met
ENST00000675403.1:n.1981C>T
ENST00000675569.1:c.*1057C>T	ENSP00000502534.1:n.*1057C>T
ENST00000675643.1:c.1823C>T	ENSP00000502797.1:p.Thr608Met
ENST00000675691.1:c.1694C>T	ENSP00000502196.1:p.Thr565Met
ENST00000675751.1:c.*850C>T	ENSP00000502277.1:n.*850C>T
ENST00000675853.1:c.1823C>T	ENSP00000502367.1:p.Thr608Met
ENST00000675917.1:n.2120C>T
ENST00000675953.1:c.1739C>T	ENSP00000502321.1:p.Thr580Met
ENST00000675986.1:n.1981C>T
ENST00000676004.1:c.*1822C>T	ENSP00000502765.1:n.*1822C>T
ENST00000676040.1:c.*1057C>T	ENSP00000502108.1:n.*1057C>T
ENST00000676168.1:c.1823C>T	ENSP00000502479.1:p.Thr608Met
ENST00000676209.1:c.*175C>T	ENSP00000502052.1:n.*175C>T
ENST00000676211.1:c.*850C>T	ENSP00000502726.1:n.*850C>T
ENST00000676212.1:c.1823C>T	ENSP00000501853.1:p.Thr608Met
ENST00000676247.1:c.*175C>T	ENSP00000502699.1:n.*175C>T
XR_933220.1:n.1974C>T
XR_933220.3:n.1933C>T