Canonical Allele Identifier: CA396557547

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291957G>A (hg19) ; chr16:g.70258054G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258054G>A , CM000678.2:g.70258054G>A	GRCh38
NC_000016.9:g.70291957G>A , CM000678.1:g.70291957G>A	GRCh37
NC_000016.8:g.68849458G>A	NCBI36
NG_023191.1:g.36456C>T , LRG_359:g.36456C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2156C>T MANE Select	ENSP00000261772.8:p.Ser719Phe
ENST00000564359.6:n.2150+926C>T
ENST00000565361.3:c.2156C>T	ENSP00000455360.3:p.Ser719Phe
ENST00000674512.1:c.2135C>T	ENSP00000501613.1:p.Ser712Phe
ENST00000674652.1:c.*1945C>T	ENSP00000502620.1:n.*1945C>T
ENST00000674691.1:c.2156C>T	ENSP00000502247.1:p.Ser719Phe
ENST00000674768.1:c.*411C>T	ENSP00000501679.1:n.*411C>T
ENST00000674811.1:c.*349C>T	ENSP00000502055.1:n.*349C>T
ENST00000674848.1:n.2205C>T
ENST00000674962.1:n.2314C>T
ENST00000674963.1:c.2156C>T	ENSP00000501924.1:p.Ser719Phe
ENST00000675035.1:c.2156C>T	ENSP00000502712.1:p.Ser719Phe
ENST00000675045.1:c.2183C>T	ENSP00000502014.1:p.Ser728Phe
ENST00000675120.1:c.*466C>T	ENSP00000502823.1:n.*466C>T
ENST00000675133.1:c.2129C>T	ENSP00000502230.1:p.Ser710Phe
ENST00000675270.1:n.2291C>T
ENST00000675297.1:c.*508C>T	ENSP00000502753.1:n.*508C>T
ENST00000675371.1:c.1992+926C>T	ENSP00000502645.1:n.1992+926C>T
ENST00000675403.1:n.3076C>T
ENST00000675569.1:c.*1390C>T	ENSP00000502534.1:n.*1390C>T
ENST00000675643.1:c.2156C>T	ENSP00000502797.1:p.Ser719Phe
ENST00000675691.1:c.2027C>T	ENSP00000502196.1:p.Ser676Phe
ENST00000675751.1:c.*1183C>T	ENSP00000502277.1:n.*1183C>T
ENST00000675853.1:c.2156C>T	ENSP00000502367.1:p.Ser719Phe
ENST00000675917.1:n.2453C>T
ENST00000675953.1:c.2072C>T	ENSP00000502321.1:p.Ser691Phe
ENST00000675986.1:n.2314C>T
ENST00000676004.1:c.*2155C>T	ENSP00000502765.1:n.*2155C>T
ENST00000676040.1:c.*1390C>T	ENSP00000502108.1:n.*1390C>T
ENST00000676168.1:c.1992+926C>T	ENSP00000502479.1:n.1992+926C>T
ENST00000676209.1:c.*508C>T	ENSP00000502052.1:n.*508C>T
ENST00000676211.1:c.*1183C>T	ENSP00000502726.1:n.*1183C>T
ENST00000676212.1:c.2156C>T	ENSP00000501853.1:p.Ser719Phe
ENST00000676247.1:c.*508C>T	ENSP00000502699.1:n.*508C>T
ENST00000261772.12:c.2156C>T	ENSP00000261772.7:p.Ser719Phe
ENST00000564359.5:n.488+926C>T
ENST00000565361.2:c.501C>T
ENST00000569825.1:n.162C>T
NM_001605.2:c.2156C>T , LRG_359t1:c.2156C>T	NP_001596.2:p.Ser719Phe
XR_933220.1:n.2143+926C>T
XR_933220.3:n.2102+926C>T
NM_001605.3:c.2156C>T MANE Select	NP_001596.2:p.Ser719Phe