Canonical Allele Identifier: CA396557652

Gene: AARS1

Linked Data

• MyVariant Identifiers: chr16:g.70292011A>C (hg19) ; chr16:g.70258108A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258108A>C , CM000678.2:g.70258108A>C	GRCh38
NC_000016.9:g.70292011A>C , CM000678.1:g.70292011A>C	GRCh37
NC_000016.8:g.68849512A>C	NCBI36
NG_023191.1:g.36402T>G , LRG_359:g.36402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2102T>G MANE Select	ENSP00000261772.8:p.Val701Gly
ENST00000564359.6:n.2150+872T>G
ENST00000565361.3:c.2102T>G	ENSP00000455360.3:p.Val701Gly
ENST00000674512.1:c.2081T>G	ENSP00000501613.1:p.Val694Gly
ENST00000674652.1:c.*1891T>G	ENSP00000502620.1:n.*1891T>G
ENST00000674691.1:c.2102T>G	ENSP00000502247.1:p.Val701Gly
ENST00000674768.1:c.*357T>G	ENSP00000501679.1:n.*357T>G
ENST00000674811.1:c.*295T>G	ENSP00000502055.1:n.*295T>G
ENST00000674848.1:n.2151T>G
ENST00000674962.1:n.2260T>G
ENST00000674963.1:c.2102T>G	ENSP00000501924.1:p.Val701Gly
ENST00000675035.1:c.2102T>G	ENSP00000502712.1:p.Val701Gly
ENST00000675045.1:c.2129T>G	ENSP00000502014.1:p.Val710Gly
ENST00000675120.1:c.*412T>G	ENSP00000502823.1:n.*412T>G
ENST00000675133.1:c.2075T>G	ENSP00000502230.1:p.Val692Gly
ENST00000675270.1:n.2237T>G
ENST00000675297.1:c.*454T>G	ENSP00000502753.1:n.*454T>G
ENST00000675371.1:c.1992+872T>G	ENSP00000502645.1:n.1992+872T>G
ENST00000675403.1:n.3022T>G
ENST00000675569.1:c.*1336T>G	ENSP00000502534.1:n.*1336T>G
ENST00000675643.1:c.2102T>G	ENSP00000502797.1:p.Val701Gly
ENST00000675691.1:c.1973T>G	ENSP00000502196.1:p.Val658Gly
ENST00000675751.1:c.*1129T>G	ENSP00000502277.1:n.*1129T>G
ENST00000675853.1:c.2102T>G	ENSP00000502367.1:p.Val701Gly
ENST00000675917.1:n.2399T>G
ENST00000675953.1:c.2018T>G	ENSP00000502321.1:p.Val673Gly
ENST00000675986.1:n.2260T>G
ENST00000676004.1:c.*2101T>G	ENSP00000502765.1:n.*2101T>G
ENST00000676040.1:c.*1336T>G	ENSP00000502108.1:n.*1336T>G
ENST00000676168.1:c.1992+872T>G	ENSP00000502479.1:n.1992+872T>G
ENST00000676209.1:c.*454T>G	ENSP00000502052.1:n.*454T>G
ENST00000676211.1:c.*1129T>G	ENSP00000502726.1:n.*1129T>G
ENST00000676212.1:c.2102T>G	ENSP00000501853.1:p.Val701Gly
ENST00000676247.1:c.*454T>G	ENSP00000502699.1:n.*454T>G
ENST00000261772.12:c.2102T>G	ENSP00000261772.7:p.Val701Gly
ENST00000564359.5:n.488+872T>G
ENST00000565361.2:c.447T>G
ENST00000569825.1:n.108T>G
NM_001605.2:c.2102T>G , LRG_359t1:c.2102T>G	NP_001596.2:p.Val701Gly
XR_933220.1:n.2143+872T>G
XR_933220.3:n.2102+872T>G
NM_001605.3:c.2102T>G MANE Select	NP_001596.2:p.Val701Gly