Canonical Allele Identifier: CA496202301

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258191-C-A
• MyVariant Identifiers: chr16:g.70292094C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258191C>A , CM000678.2:g.70258191C>A	GRCh38
NC_000016.9:g.70292094C>A , CM000678.1:g.70292094C>A	GRCh37
NC_000016.8:g.68849595C>A	NCBI36
NG_023191.1:g.36319G>T , LRG_359:g.36319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2019G>T MANE Select	ENSP00000261772.8:p.Leu673=
ENST00000564359.6:n.2150+789G>T
ENST00000565361.3:c.2019G>T	ENSP00000455360.3:p.Leu673=
ENST00000674512.1:c.1998G>T	ENSP00000501613.1:p.Leu666=
ENST00000674652.1:c.*1808G>T	ENSP00000502620.1:n.*1808G>T
ENST00000674691.1:c.2019G>T	ENSP00000502247.1:p.Leu673=
ENST00000674768.1:c.*274G>T	ENSP00000501679.1:n.*274G>T
ENST00000674811.1:c.*212G>T	ENSP00000502055.1:n.*212G>T
ENST00000674848.1:n.2068G>T
ENST00000674962.1:n.2177G>T
ENST00000674963.1:c.2019G>T	ENSP00000501924.1:p.Leu673=
ENST00000675035.1:c.2019G>T	ENSP00000502712.1:p.Leu673=
ENST00000675045.1:c.2046G>T	ENSP00000502014.1:p.Leu682=
ENST00000675120.1:c.*329G>T	ENSP00000502823.1:n.*329G>T
ENST00000675133.1:c.1992G>T	ENSP00000502230.1:p.Leu664=
ENST00000675270.1:n.2154G>T
ENST00000675297.1:c.*371G>T	ENSP00000502753.1:n.*371G>T
ENST00000675371.1:c.1992+789G>T	ENSP00000502645.1:n.1992+789G>T
ENST00000675403.1:n.2939G>T
ENST00000675569.1:c.*1253G>T	ENSP00000502534.1:n.*1253G>T
ENST00000675643.1:c.2019G>T	ENSP00000502797.1:p.Leu673=
ENST00000675691.1:c.1890G>T	ENSP00000502196.1:p.Leu630=
ENST00000675751.1:c.*1046G>T	ENSP00000502277.1:n.*1046G>T
ENST00000675853.1:c.2019G>T	ENSP00000502367.1:p.Leu673=
ENST00000675917.1:n.2316G>T
ENST00000675953.1:c.1935G>T	ENSP00000502321.1:p.Leu645=
ENST00000675986.1:n.2177G>T
ENST00000676004.1:c.*2018G>T	ENSP00000502765.1:n.*2018G>T
ENST00000676040.1:c.*1253G>T	ENSP00000502108.1:n.*1253G>T
ENST00000676168.1:c.1992+789G>T	ENSP00000502479.1:n.1992+789G>T
ENST00000676209.1:c.*371G>T	ENSP00000502052.1:n.*371G>T
ENST00000676211.1:c.*1046G>T	ENSP00000502726.1:n.*1046G>T
ENST00000676212.1:c.2019G>T	ENSP00000501853.1:p.Leu673=
ENST00000676247.1:c.*371G>T	ENSP00000502699.1:n.*371G>T
ENST00000261772.12:c.2019G>T	ENSP00000261772.7:p.Leu673=
ENST00000564359.5:n.488+789G>T
ENST00000565361.2:c.364G>T
ENST00000569825.1:n.25G>T
NM_001605.2:c.2019G>T , LRG_359t1:c.2019G>T	NP_001596.2:p.Leu673=
XR_933220.1:n.2143+789G>T
XR_933220.3:n.2102+789G>T
NM_001605.3:c.2019G>T MANE Select	NP_001596.2:p.Leu673=