Canonical Allele Identifier: CA396557573

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291970C>A (hg19) ; chr16:g.70258067C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258067C>A , CM000678.2:g.70258067C>A	GRCh38
NC_000016.9:g.70291970C>A , CM000678.1:g.70291970C>A	GRCh37
NC_000016.8:g.68849471C>A	NCBI36
NG_023191.1:g.36443G>T , LRG_359:g.36443G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2143G>T MANE Select	ENSP00000261772.8:p.Gly715Cys
ENST00000564359.6:n.2150+913G>T
ENST00000565361.3:c.2143G>T	ENSP00000455360.3:p.Gly715Cys
ENST00000674512.1:c.2122G>T	ENSP00000501613.1:p.Gly708Cys
ENST00000674652.1:c.*1932G>T	ENSP00000502620.1:n.*1932G>T
ENST00000674691.1:c.2143G>T	ENSP00000502247.1:p.Gly715Cys
ENST00000674768.1:c.*398G>T	ENSP00000501679.1:n.*398G>T
ENST00000674811.1:c.*336G>T	ENSP00000502055.1:n.*336G>T
ENST00000674848.1:n.2192G>T
ENST00000674962.1:n.2301G>T
ENST00000674963.1:c.2143G>T	ENSP00000501924.1:p.Gly715Cys
ENST00000675035.1:c.2143G>T	ENSP00000502712.1:p.Gly715Cys
ENST00000675045.1:c.2170G>T	ENSP00000502014.1:p.Gly724Cys
ENST00000675120.1:c.*453G>T	ENSP00000502823.1:n.*453G>T
ENST00000675133.1:c.2116G>T	ENSP00000502230.1:p.Gly706Cys
ENST00000675270.1:n.2278G>T
ENST00000675297.1:c.*495G>T	ENSP00000502753.1:n.*495G>T
ENST00000675371.1:c.1992+913G>T	ENSP00000502645.1:n.1992+913G>T
ENST00000675403.1:n.3063G>T
ENST00000675569.1:c.*1377G>T	ENSP00000502534.1:n.*1377G>T
ENST00000675643.1:c.2143G>T	ENSP00000502797.1:p.Gly715Cys
ENST00000675691.1:c.2014G>T	ENSP00000502196.1:p.Gly672Cys
ENST00000675751.1:c.*1170G>T	ENSP00000502277.1:n.*1170G>T
ENST00000675853.1:c.2143G>T	ENSP00000502367.1:p.Gly715Cys
ENST00000675917.1:n.2440G>T
ENST00000675953.1:c.2059G>T	ENSP00000502321.1:p.Gly687Cys
ENST00000675986.1:n.2301G>T
ENST00000676004.1:c.*2142G>T	ENSP00000502765.1:n.*2142G>T
ENST00000676040.1:c.*1377G>T	ENSP00000502108.1:n.*1377G>T
ENST00000676168.1:c.1992+913G>T	ENSP00000502479.1:n.1992+913G>T
ENST00000676209.1:c.*495G>T	ENSP00000502052.1:n.*495G>T
ENST00000676211.1:c.*1170G>T	ENSP00000502726.1:n.*1170G>T
ENST00000676212.1:c.2143G>T	ENSP00000501853.1:p.Gly715Cys
ENST00000676247.1:c.*495G>T	ENSP00000502699.1:n.*495G>T
ENST00000261772.12:c.2143G>T	ENSP00000261772.7:p.Gly715Cys
ENST00000564359.5:n.488+913G>T
ENST00000565361.2:c.488G>T
ENST00000569825.1:n.149G>T
NM_001605.2:c.2143G>T , LRG_359t1:c.2143G>T	NP_001596.2:p.Gly715Cys
XR_933220.1:n.2143+913G>T
XR_933220.3:n.2102+913G>T
NM_001605.3:c.2143G>T MANE Select	NP_001596.2:p.Gly715Cys