Canonical Allele Identifier: CA396557550

Gene: AARS1

Linked Data

• gnomAD v4: 16-70258055-A-G
• MyVariant Identifiers: chr16:g.70291958A>G (hg19) ; chr16:g.70258055A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70258055A>G , CM000678.2:g.70258055A>G	GRCh38
NC_000016.9:g.70291958A>G , CM000678.1:g.70291958A>G	GRCh37
NC_000016.8:g.68849459A>G	NCBI36
NG_023191.1:g.36455T>C , LRG_359:g.36455T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261772.13:c.2155T>C MANE Select	ENSP00000261772.8:p.Ser719Pro
ENST00000564359.6:n.2150+925T>C
ENST00000565361.3:c.2155T>C	ENSP00000455360.3:p.Ser719Pro
ENST00000674512.1:c.2134T>C	ENSP00000501613.1:p.Ser712Pro
ENST00000674652.1:c.*1944T>C	ENSP00000502620.1:n.*1944T>C
ENST00000674691.1:c.2155T>C	ENSP00000502247.1:p.Ser719Pro
ENST00000674768.1:c.*410T>C	ENSP00000501679.1:n.*410T>C
ENST00000674811.1:c.*348T>C	ENSP00000502055.1:n.*348T>C
ENST00000674848.1:n.2204T>C
ENST00000674962.1:n.2313T>C
ENST00000674963.1:c.2155T>C	ENSP00000501924.1:p.Ser719Pro
ENST00000675035.1:c.2155T>C	ENSP00000502712.1:p.Ser719Pro
ENST00000675045.1:c.2182T>C	ENSP00000502014.1:p.Ser728Pro
ENST00000675120.1:c.*465T>C	ENSP00000502823.1:n.*465T>C
ENST00000675133.1:c.2128T>C	ENSP00000502230.1:p.Ser710Pro
ENST00000675270.1:n.2290T>C
ENST00000675297.1:c.*507T>C	ENSP00000502753.1:n.*507T>C
ENST00000675371.1:c.1992+925T>C	ENSP00000502645.1:n.1992+925T>C
ENST00000675403.1:n.3075T>C
ENST00000675569.1:c.*1389T>C	ENSP00000502534.1:n.*1389T>C
ENST00000675643.1:c.2155T>C	ENSP00000502797.1:p.Ser719Pro
ENST00000675691.1:c.2026T>C	ENSP00000502196.1:p.Ser676Pro
ENST00000675751.1:c.*1182T>C	ENSP00000502277.1:n.*1182T>C
ENST00000675853.1:c.2155T>C	ENSP00000502367.1:p.Ser719Pro
ENST00000675917.1:n.2452T>C
ENST00000675953.1:c.2071T>C	ENSP00000502321.1:p.Ser691Pro
ENST00000675986.1:n.2313T>C
ENST00000676004.1:c.*2154T>C	ENSP00000502765.1:n.*2154T>C
ENST00000676040.1:c.*1389T>C	ENSP00000502108.1:n.*1389T>C
ENST00000676168.1:c.1992+925T>C	ENSP00000502479.1:n.1992+925T>C
ENST00000676209.1:c.*507T>C	ENSP00000502052.1:n.*507T>C
ENST00000676211.1:c.*1182T>C	ENSP00000502726.1:n.*1182T>C
ENST00000676212.1:c.2155T>C	ENSP00000501853.1:p.Ser719Pro
ENST00000676247.1:c.*507T>C	ENSP00000502699.1:n.*507T>C
ENST00000261772.12:c.2155T>C	ENSP00000261772.7:p.Ser719Pro
ENST00000564359.5:n.488+925T>C
ENST00000565361.2:c.500T>C
ENST00000569825.1:n.161T>C
NM_001605.2:c.2155T>C , LRG_359t1:c.2155T>C	NP_001596.2:p.Ser719Pro
XR_933220.1:n.2143+925T>C
XR_933220.3:n.2102+925T>C
NM_001605.3:c.2155T>C MANE Select	NP_001596.2:p.Ser719Pro