Canonical Allele Identifier: CA496202218

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70291983_70291984insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258080_70258081insC , CM000678.2:g.70258080_70258081insC	GRCh38
NC_000016.9:g.70291983_70291984insC , CM000678.1:g.70291983_70291984insC	GRCh37
NC_000016.8:g.68849484_68849485insC	NCBI36
NG_023191.1:g.36429_36430insG , LRG_359:g.36429_36430insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2129_2130insG MANE Select	ENSP00000261772.8:p.Ser711LeufsTer11
ENST00000564359.6:n.2150+899_2150+900insG
ENST00000565361.3:c.2129_2130insG	ENSP00000455360.3:p.Ser711LeufsTer11
ENST00000674512.1:c.2108_2109insG	ENSP00000501613.1:p.Ser704LeufsTer11
ENST00000674652.1:c.*1918_*1919insG	ENSP00000502620.1:n.*1918_*1919insG
ENST00000674691.1:c.2129_2130insG	ENSP00000502247.1:p.Ser711LeufsTer11
ENST00000674768.1:c.*384_*385insG	ENSP00000501679.1:n.*384_*385insG
ENST00000674811.1:c.*322_*323insG	ENSP00000502055.1:n.*322_*323insG
ENST00000674848.1:n.2178_2179insG
ENST00000674962.1:n.2287_2288insG
ENST00000674963.1:c.2129_2130insG	ENSP00000501924.1:p.Ser711LeufsTer11
ENST00000675035.1:c.2129_2130insG	ENSP00000502712.1:p.Ser711LeufsTer22
ENST00000675045.1:c.2156_2157insG	ENSP00000502014.1:p.Ser720LeufsTer11
ENST00000675120.1:c.*439_*440insG	ENSP00000502823.1:n.*439_*440insG
ENST00000675133.1:c.2102_2103insG	ENSP00000502230.1:p.Ser702LeufsTer11
ENST00000675270.1:n.2264_2265insG
ENST00000675297.1:c.*481_*482insG	ENSP00000502753.1:n.*481_*482insG
ENST00000675371.1:c.1992+899_1992+900insG	ENSP00000502645.1:n.1992+899_1992+900insG
ENST00000675403.1:n.3049_3050insG
ENST00000675569.1:c.*1363_*1364insG	ENSP00000502534.1:n.*1363_*1364insG
ENST00000675643.1:c.2129_2130insG	ENSP00000502797.1:p.Ser711LeufsTer11
ENST00000675691.1:c.2000_2001insG	ENSP00000502196.1:p.Ser668LeufsTer11
ENST00000675751.1:c.*1156_*1157insG	ENSP00000502277.1:n.*1156_*1157insG
ENST00000675853.1:c.2129_2130insG	ENSP00000502367.1:p.Ser711LeufsTer11
ENST00000675917.1:n.2426_2427insG
ENST00000675953.1:c.2045_2046insG	ENSP00000502321.1:p.Ser683LeufsTer11
ENST00000675986.1:n.2287_2288insG
ENST00000676004.1:c.*2128_*2129insG	ENSP00000502765.1:n.*2128_*2129insG
ENST00000676040.1:c.*1363_*1364insG	ENSP00000502108.1:n.*1363_*1364insG
ENST00000676168.1:c.1992+899_1992+900insG	ENSP00000502479.1:n.1992+899_1992+900insG
ENST00000676209.1:c.*481_*482insG	ENSP00000502052.1:n.*481_*482insG
ENST00000676211.1:c.*1156_*1157insG	ENSP00000502726.1:n.*1156_*1157insG
ENST00000676212.1:c.2129_2130insG	ENSP00000501853.1:p.Ser711LeufsTer11
ENST00000676247.1:c.*481_*482insG	ENSP00000502699.1:n.*481_*482insG
ENST00000261772.12:c.2129_2130insG	ENSP00000261772.7:p.Ser711LeufsTer11
ENST00000564359.5:n.488+899_488+900insG
ENST00000565361.2:c.474_475insG
ENST00000569825.1:n.135_136insG
NM_001605.2:c.2129_2130insG , LRG_359t1:c.2129_2130insG	NP_001596.2:p.Ser711LeufsTer11
XR_933220.1:n.2143+899_2143+900insG
XR_933220.3:n.2102+899_2102+900insG
NM_001605.3:c.2129_2130insG MANE Select	NP_001596.2:p.Ser711LeufsTer11