Canonical Allele Identifier: CA367125035

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651777A>T (hg19) ; chr7:g.30612161A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612161A>T , CM000669.2:g.30612161A>T	GRCh38
NC_000007.13:g.30651777A>T , CM000669.1:g.30651777A>T	GRCh37
NC_000007.12:g.30618302A>T	NCBI36
NG_007942.1:g.22597A>T , LRG_243:g.22597A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.947A>T MANE Select	ENSP00000373918.3:p.Gln316Leu
ENST00000444666.6:c.947A>T	ENSP00000415447.2:p.Gln316Leu
ENST00000470392.2:n.1037A>T
ENST00000478124.6:n.1010A>T
ENST00000485784.2:n.1026A>T
ENST00000674616.1:c.*661A>T	ENSP00000502408.1:n.*661A>T
ENST00000674643.1:c.947A>T	ENSP00000501636.1:p.Gln316Leu
ENST00000674734.1:n.1443A>T
ENST00000674737.1:c.*285A>T	ENSP00000502464.1:n.*285A>T
ENST00000674807.1:c.947A>T	ENSP00000502814.1:p.Gln316Leu
ENST00000674815.1:c.578A>T	ENSP00000502799.1:p.Gln193Leu
ENST00000674851.1:c.578A>T	ENSP00000502451.1:p.Gln193Leu
ENST00000674969.1:n.2820A>T
ENST00000675051.1:c.746A>T	ENSP00000502296.1:p.Gln249Leu
ENST00000675529.1:c.*817A>T	ENSP00000501655.1:n.*817A>T
ENST00000675587.1:n.963A>T
ENST00000675651.1:c.947A>T	ENSP00000502513.1:p.Gln316Leu
ENST00000675693.1:c.779A>T	ENSP00000502174.1:p.Gln260Leu
ENST00000675810.1:c.845A>T	ENSP00000502743.1:p.Gln282Leu
ENST00000675859.1:c.947A>T	ENSP00000502033.1:p.Gln316Leu
ENST00000675863.1:n.955A>T
ENST00000675886.1:n.6987A>T
ENST00000676088.1:c.*889A>T	ENSP00000501884.1:n.*889A>T
ENST00000676140.1:c.947A>T	ENSP00000502571.1:p.Gln316Leu
ENST00000676164.1:c.*398A>T	ENSP00000501986.1:n.*398A>T
ENST00000676210.1:c.*236A>T	ENSP00000502373.1:n.*236A>T
ENST00000676259.1:c.*379A>T	ENSP00000501980.1:n.*379A>T
ENST00000676403.1:c.947A>T	ENSP00000502681.1:p.Gln316Leu
ENST00000389266.7:c.947A>T	ENSP00000373918.3:p.Gln316Leu
ENST00000478124.5:n.985A>T
NM_001316772.1:c.785A>T	NP_001303701.1:p.Gln262Leu
NM_002047.2:c.947A>T , LRG_243t1:c.947A>T	NP_002038.2:p.Gln316Leu
NM_002047.3:c.947A>T	NP_002038.2:p.Gln316Leu
XM_006715686.1:c.578A>T	XP_006715749.1:p.Gln193Leu
XM_006715686.2:c.578A>T	XP_006715749.1:p.Gln193Leu
NM_002047.4:c.947A>T MANE Select	NP_002038.2:p.Gln316Leu