Canonical Allele Identifier: CA367124561

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649304T>G (hg19) ; chr7:g.30609688T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609688T>G , CM000669.2:g.30609688T>G	GRCh38
NC_000007.13:g.30649304T>G , CM000669.1:g.30649304T>G	GRCh37
NC_000007.12:g.30615829T>G	NCBI36
NG_007942.1:g.20124T>G , LRG_243:g.20124T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.839T>G MANE Select	ENSP00000373918.3:p.Leu280Ter
ENST00000444666.6:c.839T>G	ENSP00000415447.2:p.Leu280Ter
ENST00000470392.2:n.929T>G
ENST00000478124.6:n.902T>G
ENST00000485784.2:n.918T>G
ENST00000674616.1:c.*553T>G	ENSP00000502408.1:n.*553T>G
ENST00000674643.1:c.839T>G	ENSP00000501636.1:p.Leu280Ter
ENST00000674734.1:n.1335T>G
ENST00000674737.1:c.*177T>G	ENSP00000502464.1:n.*177T>G
ENST00000674807.1:c.839T>G	ENSP00000502814.1:p.Leu280Ter
ENST00000674815.1:c.470T>G	ENSP00000502799.1:p.Leu157Ter
ENST00000674851.1:c.470T>G	ENSP00000502451.1:p.Leu157Ter
ENST00000674969.1:n.2712T>G
ENST00000675051.1:c.638T>G	ENSP00000502296.1:p.Leu213Ter
ENST00000675529.1:c.*709T>G	ENSP00000501655.1:n.*709T>G
ENST00000675587.1:n.855T>G
ENST00000675651.1:c.839T>G	ENSP00000502513.1:p.Leu280Ter
ENST00000675693.1:c.671T>G	ENSP00000502174.1:p.Leu224Ter
ENST00000675810.1:c.737T>G	ENSP00000502743.1:p.Leu246Ter
ENST00000675859.1:c.839T>G	ENSP00000502033.1:p.Leu280Ter
ENST00000675863.1:n.847T>G
ENST00000675886.1:n.6879T>G
ENST00000676088.1:c.*781T>G	ENSP00000501884.1:n.*781T>G
ENST00000676140.1:c.839T>G	ENSP00000502571.1:p.Leu280Ter
ENST00000676164.1:c.*290T>G	ENSP00000501986.1:n.*290T>G
ENST00000676210.1:c.*128T>G	ENSP00000502373.1:n.*128T>G
ENST00000676259.1:c.*271T>G	ENSP00000501980.1:n.*271T>G
ENST00000676403.1:c.839T>G	ENSP00000502681.1:p.Leu280Ter
ENST00000389266.7:c.839T>G	ENSP00000373918.3:p.Leu280Ter
ENST00000478124.5:n.877T>G
NM_001316772.1:c.677T>G	NP_001303701.1:p.Leu226Ter
NM_002047.2:c.839T>G , LRG_243t1:c.839T>G	NP_002038.2:p.Leu280Ter
NM_002047.3:c.839T>G	NP_002038.2:p.Leu280Ter
XM_006715686.1:c.470T>G	XP_006715749.1:p.Leu157Ter
XM_006715686.2:c.470T>G	XP_006715749.1:p.Leu157Ter
NM_002047.4:c.839T>G MANE Select	NP_002038.2:p.Leu280Ter