Canonical Allele Identifier: CA396557830

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258198-C-A
• MyVariant Identifiers: chr16:g.70292101C>A (hg19) ; chr16:g.70258198C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258198C>A , CM000678.2:g.70258198C>A	GRCh38
NC_000016.9:g.70292101C>A , CM000678.1:g.70292101C>A	GRCh37
NC_000016.8:g.68849602C>A	NCBI36
NG_023191.1:g.36312G>T , LRG_359:g.36312G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2012G>T MANE Select	ENSP00000261772.8:p.Cys671Phe
ENST00000564359.6:n.2150+782G>T
ENST00000565361.3:c.2012G>T	ENSP00000455360.3:p.Cys671Phe
ENST00000674512.1:c.1991G>T	ENSP00000501613.1:p.Cys664Phe
ENST00000674652.1:c.*1801G>T	ENSP00000502620.1:n.*1801G>T
ENST00000674691.1:c.2012G>T	ENSP00000502247.1:p.Cys671Phe
ENST00000674768.1:c.*267G>T	ENSP00000501679.1:n.*267G>T
ENST00000674811.1:c.*205G>T	ENSP00000502055.1:n.*205G>T
ENST00000674848.1:n.2061G>T
ENST00000674962.1:n.2170G>T
ENST00000674963.1:c.2012G>T	ENSP00000501924.1:p.Cys671Phe
ENST00000675035.1:c.2012G>T	ENSP00000502712.1:p.Cys671Phe
ENST00000675045.1:c.2039G>T	ENSP00000502014.1:p.Cys680Phe
ENST00000675120.1:c.*322G>T	ENSP00000502823.1:n.*322G>T
ENST00000675133.1:c.1985G>T	ENSP00000502230.1:p.Cys662Phe
ENST00000675270.1:n.2147G>T
ENST00000675297.1:c.*364G>T	ENSP00000502753.1:n.*364G>T
ENST00000675371.1:c.1992+782G>T	ENSP00000502645.1:n.1992+782G>T
ENST00000675403.1:n.2932G>T
ENST00000675569.1:c.*1246G>T	ENSP00000502534.1:n.*1246G>T
ENST00000675643.1:c.2012G>T	ENSP00000502797.1:p.Cys671Phe
ENST00000675691.1:c.1883G>T	ENSP00000502196.1:p.Cys628Phe
ENST00000675751.1:c.*1039G>T	ENSP00000502277.1:n.*1039G>T
ENST00000675853.1:c.2012G>T	ENSP00000502367.1:p.Cys671Phe
ENST00000675917.1:n.2309G>T
ENST00000675953.1:c.1928G>T	ENSP00000502321.1:p.Cys643Phe
ENST00000675986.1:n.2170G>T
ENST00000676004.1:c.*2011G>T	ENSP00000502765.1:n.*2011G>T
ENST00000676040.1:c.*1246G>T	ENSP00000502108.1:n.*1246G>T
ENST00000676168.1:c.1992+782G>T	ENSP00000502479.1:n.1992+782G>T
ENST00000676209.1:c.*364G>T	ENSP00000502052.1:n.*364G>T
ENST00000676211.1:c.*1039G>T	ENSP00000502726.1:n.*1039G>T
ENST00000676212.1:c.2012G>T	ENSP00000501853.1:p.Cys671Phe
ENST00000676247.1:c.*364G>T	ENSP00000502699.1:n.*364G>T
ENST00000261772.12:c.2012G>T	ENSP00000261772.7:p.Cys671Phe
ENST00000564359.5:n.488+782G>T
ENST00000565361.2:c.357G>T
ENST00000569825.1:n.18G>T
NM_001605.2:c.2012G>T , LRG_359t1:c.2012G>T	NP_001596.2:p.Cys671Phe
XR_933220.1:n.2143+782G>T
XR_933220.3:n.2102+782G>T
NM_001605.3:c.2012G>T MANE Select	NP_001596.2:p.Cys671Phe