Canonical Allele Identifier: CA367124922

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651746T>G (hg19) ; chr7:g.30612130T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612130T>G , CM000669.2:g.30612130T>G	GRCh38
NC_000007.13:g.30651746T>G , CM000669.1:g.30651746T>G	GRCh37
NC_000007.12:g.30618271T>G	NCBI36
NG_007942.1:g.22566T>G , LRG_243:g.22566T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.916T>G MANE Select	ENSP00000373918.3:p.Leu306Val
ENST00000444666.6:c.916T>G	ENSP00000415447.2:p.Leu306Val
ENST00000470392.2:n.1006T>G
ENST00000478124.6:n.979T>G
ENST00000485784.2:n.995T>G
ENST00000674616.1:c.*630T>G	ENSP00000502408.1:n.*630T>G
ENST00000674643.1:c.916T>G	ENSP00000501636.1:p.Leu306Val
ENST00000674734.1:n.1412T>G
ENST00000674737.1:c.*254T>G	ENSP00000502464.1:n.*254T>G
ENST00000674807.1:c.916T>G	ENSP00000502814.1:p.Leu306Val
ENST00000674815.1:c.547T>G	ENSP00000502799.1:p.Leu183Val
ENST00000674851.1:c.547T>G	ENSP00000502451.1:p.Leu183Val
ENST00000674969.1:n.2789T>G
ENST00000675051.1:c.715T>G	ENSP00000502296.1:p.Leu239Val
ENST00000675529.1:c.*786T>G	ENSP00000501655.1:n.*786T>G
ENST00000675587.1:n.932T>G
ENST00000675651.1:c.916T>G	ENSP00000502513.1:p.Leu306Val
ENST00000675693.1:c.748T>G	ENSP00000502174.1:p.Leu250Val
ENST00000675810.1:c.814T>G	ENSP00000502743.1:p.Leu272Val
ENST00000675859.1:c.916T>G	ENSP00000502033.1:p.Leu306Val
ENST00000675863.1:n.924T>G
ENST00000675886.1:n.6956T>G
ENST00000676088.1:c.*858T>G	ENSP00000501884.1:n.*858T>G
ENST00000676140.1:c.916T>G	ENSP00000502571.1:p.Leu306Val
ENST00000676164.1:c.*367T>G	ENSP00000501986.1:n.*367T>G
ENST00000676210.1:c.*205T>G	ENSP00000502373.1:n.*205T>G
ENST00000676259.1:c.*348T>G	ENSP00000501980.1:n.*348T>G
ENST00000676403.1:c.916T>G	ENSP00000502681.1:p.Leu306Val
ENST00000389266.7:c.916T>G	ENSP00000373918.3:p.Leu306Val
ENST00000478124.5:n.954T>G
NM_001316772.1:c.754T>G	NP_001303701.1:p.Leu252Val
NM_002047.2:c.916T>G , LRG_243t1:c.916T>G	NP_002038.2:p.Leu306Val
NM_002047.3:c.916T>G	NP_002038.2:p.Leu306Val
XM_006715686.1:c.547T>G	XP_006715749.1:p.Leu183Val
XM_006715686.2:c.547T>G	XP_006715749.1:p.Leu183Val
NM_002047.4:c.916T>G MANE Select	NP_002038.2:p.Leu306Val