Canonical Allele Identifier: CA396557679

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258123-A-G
• MyVariant Identifiers: chr16:g.70292026A>G (hg19) ; chr16:g.70258123A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258123A>G , CM000678.2:g.70258123A>G	GRCh38
NC_000016.9:g.70292026A>G , CM000678.1:g.70292026A>G	GRCh37
NC_000016.8:g.68849527A>G	NCBI36
NG_023191.1:g.36387T>C , LRG_359:g.36387T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2087T>C MANE Select	ENSP00000261772.8:p.Val696Ala
ENST00000564359.6:n.2150+857T>C
ENST00000565361.3:c.2087T>C	ENSP00000455360.3:p.Val696Ala
ENST00000674512.1:c.2066T>C	ENSP00000501613.1:p.Val689Ala
ENST00000674652.1:c.*1876T>C	ENSP00000502620.1:n.*1876T>C
ENST00000674691.1:c.2087T>C	ENSP00000502247.1:p.Val696Ala
ENST00000674768.1:c.*342T>C	ENSP00000501679.1:n.*342T>C
ENST00000674811.1:c.*280T>C	ENSP00000502055.1:n.*280T>C
ENST00000674848.1:n.2136T>C
ENST00000674962.1:n.2245T>C
ENST00000674963.1:c.2087T>C	ENSP00000501924.1:p.Val696Ala
ENST00000675035.1:c.2087T>C	ENSP00000502712.1:p.Val696Ala
ENST00000675045.1:c.2114T>C	ENSP00000502014.1:p.Val705Ala
ENST00000675120.1:c.*397T>C	ENSP00000502823.1:n.*397T>C
ENST00000675133.1:c.2060T>C	ENSP00000502230.1:p.Val687Ala
ENST00000675270.1:n.2222T>C
ENST00000675297.1:c.*439T>C	ENSP00000502753.1:n.*439T>C
ENST00000675371.1:c.1992+857T>C	ENSP00000502645.1:n.1992+857T>C
ENST00000675403.1:n.3007T>C
ENST00000675569.1:c.*1321T>C	ENSP00000502534.1:n.*1321T>C
ENST00000675643.1:c.2087T>C	ENSP00000502797.1:p.Val696Ala
ENST00000675691.1:c.1958T>C	ENSP00000502196.1:p.Val653Ala
ENST00000675751.1:c.*1114T>C	ENSP00000502277.1:n.*1114T>C
ENST00000675853.1:c.2087T>C	ENSP00000502367.1:p.Val696Ala
ENST00000675917.1:n.2384T>C
ENST00000675953.1:c.2003T>C	ENSP00000502321.1:p.Val668Ala
ENST00000675986.1:n.2245T>C
ENST00000676004.1:c.*2086T>C	ENSP00000502765.1:n.*2086T>C
ENST00000676040.1:c.*1321T>C	ENSP00000502108.1:n.*1321T>C
ENST00000676168.1:c.1992+857T>C	ENSP00000502479.1:n.1992+857T>C
ENST00000676209.1:c.*439T>C	ENSP00000502052.1:n.*439T>C
ENST00000676211.1:c.*1114T>C	ENSP00000502726.1:n.*1114T>C
ENST00000676212.1:c.2087T>C	ENSP00000501853.1:p.Val696Ala
ENST00000676247.1:c.*439T>C	ENSP00000502699.1:n.*439T>C
ENST00000261772.12:c.2087T>C	ENSP00000261772.7:p.Val696Ala
ENST00000564359.5:n.488+857T>C
ENST00000565361.2:c.432T>C
ENST00000569825.1:n.93T>C
NM_001605.2:c.2087T>C , LRG_359t1:c.2087T>C	NP_001596.2:p.Val696Ala
XR_933220.1:n.2143+857T>C
XR_933220.3:n.2102+857T>C
NM_001605.3:c.2087T>C MANE Select	NP_001596.2:p.Val696Ala