Canonical Allele Identifier: CA396557525

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291946A>G (hg19) ; chr16:g.70258043A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258043A>G , CM000678.2:g.70258043A>G	GRCh38
NC_000016.9:g.70291946A>G , CM000678.1:g.70291946A>G	GRCh37
NC_000016.8:g.68849447A>G	NCBI36
NG_023191.1:g.36467T>C , LRG_359:g.36467T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2167T>C MANE Select	ENSP00000261772.8:p.Cys723Arg
ENST00000564359.6:n.2150+937T>C
ENST00000565361.3:c.2167T>C	ENSP00000455360.3:p.Cys723Arg
ENST00000674512.1:c.2146T>C	ENSP00000501613.1:p.Cys716Arg
ENST00000674652.1:c.*1956T>C	ENSP00000502620.1:n.*1956T>C
ENST00000674691.1:c.2167T>C	ENSP00000502247.1:p.Cys723Arg
ENST00000674768.1:c.*422T>C	ENSP00000501679.1:n.*422T>C
ENST00000674811.1:c.*360T>C	ENSP00000502055.1:n.*360T>C
ENST00000674848.1:n.2216T>C
ENST00000674962.1:n.2325T>C
ENST00000674963.1:c.2167T>C	ENSP00000501924.1:p.Cys723Arg
ENST00000675035.1:c.2157+10T>C	ENSP00000502712.1:n.2157+10T>C
ENST00000675045.1:c.2194T>C	ENSP00000502014.1:p.Cys732Arg
ENST00000675120.1:c.*477T>C	ENSP00000502823.1:n.*477T>C
ENST00000675133.1:c.2140T>C	ENSP00000502230.1:p.Cys714Arg
ENST00000675270.1:n.2302T>C
ENST00000675297.1:c.*519T>C	ENSP00000502753.1:n.*519T>C
ENST00000675371.1:c.1992+937T>C	ENSP00000502645.1:n.1992+937T>C
ENST00000675403.1:n.3087T>C
ENST00000675569.1:c.*1401T>C	ENSP00000502534.1:n.*1401T>C
ENST00000675643.1:c.2167T>C	ENSP00000502797.1:p.Cys723Arg
ENST00000675691.1:c.2038T>C	ENSP00000502196.1:p.Cys680Arg
ENST00000675751.1:c.*1194T>C	ENSP00000502277.1:n.*1194T>C
ENST00000675853.1:c.2167T>C	ENSP00000502367.1:p.Cys723Arg
ENST00000675917.1:n.2464T>C
ENST00000675953.1:c.2083T>C	ENSP00000502321.1:p.Cys695Arg
ENST00000675986.1:n.2325T>C
ENST00000676004.1:c.*2166T>C	ENSP00000502765.1:n.*2166T>C
ENST00000676040.1:c.*1401T>C	ENSP00000502108.1:n.*1401T>C
ENST00000676168.1:c.1992+937T>C	ENSP00000502479.1:n.1992+937T>C
ENST00000676209.1:c.*519T>C	ENSP00000502052.1:n.*519T>C
ENST00000676211.1:c.*1194T>C	ENSP00000502726.1:n.*1194T>C
ENST00000676212.1:c.2167T>C	ENSP00000501853.1:p.Cys723Arg
ENST00000676247.1:c.*519T>C	ENSP00000502699.1:n.*519T>C
ENST00000261772.12:c.2167T>C	ENSP00000261772.7:p.Cys723Arg
ENST00000564359.5:n.488+937T>C
ENST00000565361.2:c.512T>C
ENST00000569825.1:n.173T>C
NM_001605.2:c.2167T>C , LRG_359t1:c.2167T>C	NP_001596.2:p.Cys723Arg
XR_933220.1:n.2143+937T>C
XR_933220.3:n.2102+937T>C
NM_001605.3:c.2167T>C MANE Select	NP_001596.2:p.Cys723Arg