Canonical Allele Identifier: CA496202206

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291971A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258068A>C , CM000678.2:g.70258068A>C	GRCh38
NC_000016.9:g.70291971A>C , CM000678.1:g.70291971A>C	GRCh37
NC_000016.8:g.68849472A>C	NCBI36
NG_023191.1:g.36442T>G , LRG_359:g.36442T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2142T>G MANE Select	ENSP00000261772.8:p.Ala714=
ENST00000564359.6:n.2150+912T>G
ENST00000565361.3:c.2142T>G	ENSP00000455360.3:p.Ala714=
ENST00000674512.1:c.2121T>G	ENSP00000501613.1:p.Ala707=
ENST00000674652.1:c.*1931T>G	ENSP00000502620.1:n.*1931T>G
ENST00000674691.1:c.2142T>G	ENSP00000502247.1:p.Ala714=
ENST00000674768.1:c.*397T>G	ENSP00000501679.1:n.*397T>G
ENST00000674811.1:c.*335T>G	ENSP00000502055.1:n.*335T>G
ENST00000674848.1:n.2191T>G
ENST00000674962.1:n.2300T>G
ENST00000674963.1:c.2142T>G	ENSP00000501924.1:p.Ala714=
ENST00000675035.1:c.2142T>G	ENSP00000502712.1:p.Ala714=
ENST00000675045.1:c.2169T>G	ENSP00000502014.1:p.Ala723=
ENST00000675120.1:c.*452T>G	ENSP00000502823.1:n.*452T>G
ENST00000675133.1:c.2115T>G	ENSP00000502230.1:p.Ala705=
ENST00000675270.1:n.2277T>G
ENST00000675297.1:c.*494T>G	ENSP00000502753.1:n.*494T>G
ENST00000675371.1:c.1992+912T>G	ENSP00000502645.1:n.1992+912T>G
ENST00000675403.1:n.3062T>G
ENST00000675569.1:c.*1376T>G	ENSP00000502534.1:n.*1376T>G
ENST00000675643.1:c.2142T>G	ENSP00000502797.1:p.Ala714=
ENST00000675691.1:c.2013T>G	ENSP00000502196.1:p.Ala671=
ENST00000675751.1:c.*1169T>G	ENSP00000502277.1:n.*1169T>G
ENST00000675853.1:c.2142T>G	ENSP00000502367.1:p.Ala714=
ENST00000675917.1:n.2439T>G
ENST00000675953.1:c.2058T>G	ENSP00000502321.1:p.Ala686=
ENST00000675986.1:n.2300T>G
ENST00000676004.1:c.*2141T>G	ENSP00000502765.1:n.*2141T>G
ENST00000676040.1:c.*1376T>G	ENSP00000502108.1:n.*1376T>G
ENST00000676168.1:c.1992+912T>G	ENSP00000502479.1:n.1992+912T>G
ENST00000676209.1:c.*494T>G	ENSP00000502052.1:n.*494T>G
ENST00000676211.1:c.*1169T>G	ENSP00000502726.1:n.*1169T>G
ENST00000676212.1:c.2142T>G	ENSP00000501853.1:p.Ala714=
ENST00000676247.1:c.*494T>G	ENSP00000502699.1:n.*494T>G
ENST00000261772.12:c.2142T>G	ENSP00000261772.7:p.Ala714=
ENST00000564359.5:n.488+912T>G
ENST00000565361.2:c.487T>G
ENST00000569825.1:n.148T>G
NM_001605.2:c.2142T>G , LRG_359t1:c.2142T>G	NP_001596.2:p.Ala714=
XR_933220.1:n.2143+912T>G
XR_933220.3:n.2102+912T>G
NM_001605.3:c.2142T>G MANE Select	NP_001596.2:p.Ala714=