Canonical Allele Identifier: CA496202191

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291956A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258053A>C , CM000678.2:g.70258053A>C	GRCh38
NC_000016.9:g.70291956A>C , CM000678.1:g.70291956A>C	GRCh37
NC_000016.8:g.68849457A>C	NCBI36
NG_023191.1:g.36457T>G , LRG_359:g.36457T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2157T>G MANE Select	ENSP00000261772.8:p.Ser719=
ENST00000564359.6:n.2150+927T>G
ENST00000565361.3:c.2157T>G	ENSP00000455360.3:p.Ser719=
ENST00000674512.1:c.2136T>G	ENSP00000501613.1:p.Ser712=
ENST00000674652.1:c.*1946T>G	ENSP00000502620.1:n.*1946T>G
ENST00000674691.1:c.2157T>G	ENSP00000502247.1:p.Ser719=
ENST00000674768.1:c.*412T>G	ENSP00000501679.1:n.*412T>G
ENST00000674811.1:c.*350T>G	ENSP00000502055.1:n.*350T>G
ENST00000674848.1:n.2206T>G
ENST00000674962.1:n.2315T>G
ENST00000674963.1:c.2157T>G	ENSP00000501924.1:p.Ser719=
ENST00000675035.1:c.2157T>G	ENSP00000502712.1:p.Ser719=
ENST00000675045.1:c.2184T>G	ENSP00000502014.1:p.Ser728=
ENST00000675120.1:c.*467T>G	ENSP00000502823.1:n.*467T>G
ENST00000675133.1:c.2130T>G	ENSP00000502230.1:p.Ser710=
ENST00000675270.1:n.2292T>G
ENST00000675297.1:c.*509T>G	ENSP00000502753.1:n.*509T>G
ENST00000675371.1:c.1992+927T>G	ENSP00000502645.1:n.1992+927T>G
ENST00000675403.1:n.3077T>G
ENST00000675569.1:c.*1391T>G	ENSP00000502534.1:n.*1391T>G
ENST00000675643.1:c.2157T>G	ENSP00000502797.1:p.Ser719=
ENST00000675691.1:c.2028T>G	ENSP00000502196.1:p.Ser676=
ENST00000675751.1:c.*1184T>G	ENSP00000502277.1:n.*1184T>G
ENST00000675853.1:c.2157T>G	ENSP00000502367.1:p.Ser719=
ENST00000675917.1:n.2454T>G
ENST00000675953.1:c.2073T>G	ENSP00000502321.1:p.Ser691=
ENST00000675986.1:n.2315T>G
ENST00000676004.1:c.*2156T>G	ENSP00000502765.1:n.*2156T>G
ENST00000676040.1:c.*1391T>G	ENSP00000502108.1:n.*1391T>G
ENST00000676168.1:c.1992+927T>G	ENSP00000502479.1:n.1992+927T>G
ENST00000676209.1:c.*509T>G	ENSP00000502052.1:n.*509T>G
ENST00000676211.1:c.*1184T>G	ENSP00000502726.1:n.*1184T>G
ENST00000676212.1:c.2157T>G	ENSP00000501853.1:p.Ser719=
ENST00000676247.1:c.*509T>G	ENSP00000502699.1:n.*509T>G
ENST00000261772.12:c.2157T>G	ENSP00000261772.7:p.Ser719=
ENST00000564359.5:n.488+927T>G
ENST00000565361.2:c.502T>G
ENST00000569825.1:n.163T>G
NM_001605.2:c.2157T>G , LRG_359t1:c.2157T>G	NP_001596.2:p.Ser719=
XR_933220.1:n.2143+927T>G
XR_933220.3:n.2102+927T>G
NM_001605.3:c.2157T>G MANE Select	NP_001596.2:p.Ser719=