Canonical Allele Identifier: CA396557763

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70292068A>C (hg19) ; chr16:g.70258165A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258165A>C , CM000678.2:g.70258165A>C	GRCh38
NC_000016.9:g.70292068A>C , CM000678.1:g.70292068A>C	GRCh37
NC_000016.8:g.68849569A>C	NCBI36
NG_023191.1:g.36345T>G , LRG_359:g.36345T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2045T>G MANE Select	ENSP00000261772.8:p.Leu682Arg
ENST00000564359.6:n.2150+815T>G
ENST00000565361.3:c.2045T>G	ENSP00000455360.3:p.Leu682Arg
ENST00000674512.1:c.2024T>G	ENSP00000501613.1:p.Leu675Arg
ENST00000674652.1:c.*1834T>G	ENSP00000502620.1:n.*1834T>G
ENST00000674691.1:c.2045T>G	ENSP00000502247.1:p.Leu682Arg
ENST00000674768.1:c.*300T>G	ENSP00000501679.1:n.*300T>G
ENST00000674811.1:c.*238T>G	ENSP00000502055.1:n.*238T>G
ENST00000674848.1:n.2094T>G
ENST00000674962.1:n.2203T>G
ENST00000674963.1:c.2045T>G	ENSP00000501924.1:p.Leu682Arg
ENST00000675035.1:c.2045T>G	ENSP00000502712.1:p.Leu682Arg
ENST00000675045.1:c.2072T>G	ENSP00000502014.1:p.Leu691Arg
ENST00000675120.1:c.*355T>G	ENSP00000502823.1:n.*355T>G
ENST00000675133.1:c.2018T>G	ENSP00000502230.1:p.Leu673Arg
ENST00000675270.1:n.2180T>G
ENST00000675297.1:c.*397T>G	ENSP00000502753.1:n.*397T>G
ENST00000675371.1:c.1992+815T>G	ENSP00000502645.1:n.1992+815T>G
ENST00000675403.1:n.2965T>G
ENST00000675569.1:c.*1279T>G	ENSP00000502534.1:n.*1279T>G
ENST00000675643.1:c.2045T>G	ENSP00000502797.1:p.Leu682Arg
ENST00000675691.1:c.1916T>G	ENSP00000502196.1:p.Leu639Arg
ENST00000675751.1:c.*1072T>G	ENSP00000502277.1:n.*1072T>G
ENST00000675853.1:c.2045T>G	ENSP00000502367.1:p.Leu682Arg
ENST00000675917.1:n.2342T>G
ENST00000675953.1:c.1961T>G	ENSP00000502321.1:p.Leu654Arg
ENST00000675986.1:n.2203T>G
ENST00000676004.1:c.*2044T>G	ENSP00000502765.1:n.*2044T>G
ENST00000676040.1:c.*1279T>G	ENSP00000502108.1:n.*1279T>G
ENST00000676168.1:c.1992+815T>G	ENSP00000502479.1:n.1992+815T>G
ENST00000676209.1:c.*397T>G	ENSP00000502052.1:n.*397T>G
ENST00000676211.1:c.*1072T>G	ENSP00000502726.1:n.*1072T>G
ENST00000676212.1:c.2045T>G	ENSP00000501853.1:p.Leu682Arg
ENST00000676247.1:c.*397T>G	ENSP00000502699.1:n.*397T>G
ENST00000261772.12:c.2045T>G	ENSP00000261772.7:p.Leu682Arg
ENST00000564359.5:n.488+815T>G
ENST00000565361.2:c.390T>G
ENST00000569825.1:n.51T>G
NM_001605.2:c.2045T>G , LRG_359t1:c.2045T>G	NP_001596.2:p.Leu682Arg
XR_933220.1:n.2143+815T>G
XR_933220.3:n.2102+815T>G
NM_001605.3:c.2045T>G MANE Select	NP_001596.2:p.Leu682Arg