Canonical Allele Identifier: CA10648862

Gene: AARS1

Linked Data

• ClinVar Variation Id: 320340
• ClinVar RCV Id: RCV000313430 ; RCV003581650 ; RCV002461083
• dbSNP Id: rs886052255
• gnomAD v4: 16-70262430-C-T
• MyVariant Identifiers: chr16:g.70296333C>T (hg19) ; chr16:g.70262430C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70262430C>T , CM000678.2:g.70262430C>T	GRCh38
NC_000016.9:g.70296333C>T , CM000678.1:g.70296333C>T	GRCh37
NC_000016.8:g.68853834C>T	NCBI36
NG_023191.1:g.32080G>A , LRG_359:g.32080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.1587G>A MANE Select	ENSP00000261772.8:p.Leu529=
ENST00000564359.6:n.1745G>A
ENST00000565361.3:c.1587G>A	ENSP00000455360.3:p.Leu529=
ENST00000674512.1:c.1587G>A	ENSP00000501613.1:p.Leu529=
ENST00000674652.1:c.*614G>A	ENSP00000502620.1:n.*614G>A
ENST00000674691.1:c.1587G>A	ENSP00000502247.1:p.Leu529=
ENST00000674768.1:c.1493-1273G>A	ENSP00000501679.1:n.1493-1273G>A
ENST00000674811.1:c.963-3244G>A	ENSP00000502055.1:n.963-3244G>A
ENST00000674848.1:n.1636G>A
ENST00000674962.1:n.1745G>A
ENST00000674963.1:c.1587G>A	ENSP00000501924.1:p.Leu529=
ENST00000675035.1:c.1587G>A	ENSP00000502712.1:p.Leu529=
ENST00000675045.1:c.1587G>A	ENSP00000502014.1:p.Leu529=
ENST00000675120.1:c.1587G>A	ENSP00000502823.1:p.Leu529=
ENST00000675133.1:c.1587G>A	ENSP00000502230.1:p.Leu529=
ENST00000675270.1:n.1722G>A
ENST00000675297.1:c.1547G>A	ENSP00000502753.1:p.Trp516Ter
ENST00000675371.1:c.1587G>A	ENSP00000502645.1:p.Leu529=
ENST00000675403.1:n.1745G>A
ENST00000675569.1:c.*821G>A	ENSP00000502534.1:n.*821G>A
ENST00000675643.1:c.1587G>A	ENSP00000502797.1:p.Leu529=
ENST00000675691.1:c.1458G>A	ENSP00000502196.1:p.Leu486=
ENST00000675751.1:c.*614G>A	ENSP00000502277.1:n.*614G>A
ENST00000675853.1:c.1587G>A	ENSP00000502367.1:p.Leu529=
ENST00000675917.1:n.1884G>A
ENST00000675953.1:c.1503G>A	ENSP00000502321.1:p.Leu501=
ENST00000675986.1:n.1745G>A
ENST00000676004.1:c.*1586G>A	ENSP00000502765.1:n.*1586G>A
ENST00000676040.1:c.*821G>A	ENSP00000502108.1:n.*821G>A
ENST00000676168.1:c.1587G>A	ENSP00000502479.1:p.Leu529=
ENST00000676209.1:c.1547G>A	ENSP00000502052.1:p.Trp516Ter
ENST00000676211.1:c.*614G>A	ENSP00000502726.1:n.*614G>A
ENST00000676212.1:c.1587G>A	ENSP00000501853.1:p.Leu529=
ENST00000676247.1:c.1547G>A	ENSP00000502699.1:p.Trp516Ter
ENST00000261772.12:c.1587G>A	ENSP00000261772.7:p.Leu529=
ENST00000564359.5:n.83G>A
ENST00000569790.2:n.264-1273G>A
NM_001605.2:c.1587G>A , LRG_359t1:c.1587G>A	NP_001596.2:p.Leu529=
XR_933220.1:n.1738G>A
XR_933220.3:n.1697G>A
NM_001605.3:c.1587G>A MANE Select	NP_001596.2:p.Leu529=