Canonical Allele Identifier: CA8140559

Gene: AARS1

Linked Data

• ClinVar Variation Id: 1682164
• ClinVar RCV Id: RCV002236849
• dbSNP Id: rs201097032
• ExAC: 16:70291995 C / G
• gnomAD v2: 16-70291995-C-G
• gnomAD v3: 16-70258092-C-G
• gnomAD v4: 16-70258092-C-G
• MyVariant Identifiers: chr16:g.70291995C>G (hg19) ; chr16:g.70258092C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258092C>G , CM000678.2:g.70258092C>G	GRCh38
NC_000016.9:g.70291995C>G , CM000678.1:g.70291995C>G	GRCh37
NC_000016.8:g.68849496C>G	NCBI36
NG_023191.1:g.36418G>C , LRG_359:g.36418G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2118G>C MANE Select	ENSP00000261772.8:p.Leu706Phe
ENST00000564359.6:n.2150+888G>C
ENST00000565361.3:c.2118G>C	ENSP00000455360.3:p.Leu706Phe
ENST00000674512.1:c.2097G>C	ENSP00000501613.1:p.Leu699Phe
ENST00000674652.1:c.*1907G>C	ENSP00000502620.1:n.*1907G>C
ENST00000674691.1:c.2118G>C	ENSP00000502247.1:p.Leu706Phe
ENST00000674768.1:c.*373G>C	ENSP00000501679.1:n.*373G>C
ENST00000674811.1:c.*311G>C	ENSP00000502055.1:n.*311G>C
ENST00000674848.1:n.2167G>C
ENST00000674962.1:n.2276G>C
ENST00000674963.1:c.2118G>C	ENSP00000501924.1:p.Leu706Phe
ENST00000675035.1:c.2118G>C	ENSP00000502712.1:p.Leu706Phe
ENST00000675045.1:c.2145G>C	ENSP00000502014.1:p.Leu715Phe
ENST00000675120.1:c.*428G>C	ENSP00000502823.1:n.*428G>C
ENST00000675133.1:c.2091G>C	ENSP00000502230.1:p.Leu697Phe
ENST00000675270.1:n.2253G>C
ENST00000675297.1:c.*470G>C	ENSP00000502753.1:n.*470G>C
ENST00000675371.1:c.1992+888G>C	ENSP00000502645.1:n.1992+888G>C
ENST00000675403.1:n.3038G>C
ENST00000675569.1:c.*1352G>C	ENSP00000502534.1:n.*1352G>C
ENST00000675643.1:c.2118G>C	ENSP00000502797.1:p.Leu706Phe
ENST00000675691.1:c.1989G>C	ENSP00000502196.1:p.Leu663Phe
ENST00000675751.1:c.*1145G>C	ENSP00000502277.1:n.*1145G>C
ENST00000675853.1:c.2118G>C	ENSP00000502367.1:p.Leu706Phe
ENST00000675917.1:n.2415G>C
ENST00000675953.1:c.2034G>C	ENSP00000502321.1:p.Leu678Phe
ENST00000675986.1:n.2276G>C
ENST00000676004.1:c.*2117G>C	ENSP00000502765.1:n.*2117G>C
ENST00000676040.1:c.*1352G>C	ENSP00000502108.1:n.*1352G>C
ENST00000676168.1:c.1992+888G>C	ENSP00000502479.1:n.1992+888G>C
ENST00000676209.1:c.*470G>C	ENSP00000502052.1:n.*470G>C
ENST00000676211.1:c.*1145G>C	ENSP00000502726.1:n.*1145G>C
ENST00000676212.1:c.2118G>C	ENSP00000501853.1:p.Leu706Phe
ENST00000676247.1:c.*470G>C	ENSP00000502699.1:n.*470G>C
ENST00000261772.12:c.2118G>C	ENSP00000261772.7:p.Leu706Phe
ENST00000564359.5:n.488+888G>C
ENST00000565361.2:c.463G>C
ENST00000569825.1:n.124G>C
NM_001605.2:c.2118G>C , LRG_359t1:c.2118G>C	NP_001596.2:p.Leu706Phe
XR_933220.1:n.2143+888G>C
XR_933220.3:n.2102+888G>C
NM_001605.3:c.2118G>C MANE Select	NP_001596.2:p.Leu706Phe