Canonical Allele Identifier: CA367124116

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30649225C>A (hg19) ; chr7:g.30609609C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609609C>A , CM000669.2:g.30609609C>A	GRCh38
NC_000007.13:g.30649225C>A , CM000669.1:g.30649225C>A	GRCh37
NC_000007.12:g.30615750C>A	NCBI36
NG_007942.1:g.20045C>A , LRG_243:g.20045C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.760C>A MANE Select	ENSP00000373918.3:p.Leu254Ile
ENST00000444666.6:c.760C>A	ENSP00000415447.2:p.Leu254Ile
ENST00000470392.2:n.850C>A
ENST00000478124.6:n.823C>A
ENST00000485784.2:n.839C>A
ENST00000674616.1:c.*474C>A	ENSP00000502408.1:n.*474C>A
ENST00000674643.1:c.760C>A	ENSP00000501636.1:p.Leu254Ile
ENST00000674734.1:n.1256C>A
ENST00000674737.1:c.*98C>A	ENSP00000502464.1:n.*98C>A
ENST00000674807.1:c.760C>A	ENSP00000502814.1:p.Leu254Ile
ENST00000674815.1:c.391C>A	ENSP00000502799.1:p.Leu131Ile
ENST00000674851.1:c.391C>A	ENSP00000502451.1:p.Leu131Ile
ENST00000674969.1:n.2633C>A
ENST00000675051.1:c.559C>A	ENSP00000502296.1:p.Leu187Ile
ENST00000675529.1:c.*630C>A	ENSP00000501655.1:n.*630C>A
ENST00000675587.1:n.776C>A
ENST00000675651.1:c.760C>A	ENSP00000502513.1:p.Leu254Ile
ENST00000675693.1:c.592C>A	ENSP00000502174.1:p.Leu198Ile
ENST00000675810.1:c.658C>A	ENSP00000502743.1:p.Leu220Ile
ENST00000675859.1:c.760C>A	ENSP00000502033.1:p.Leu254Ile
ENST00000675863.1:n.768C>A
ENST00000675886.1:n.6800C>A
ENST00000676088.1:c.*702C>A	ENSP00000501884.1:n.*702C>A
ENST00000676140.1:c.760C>A	ENSP00000502571.1:p.Leu254Ile
ENST00000676164.1:c.*211C>A	ENSP00000501986.1:n.*211C>A
ENST00000676210.1:c.*49C>A	ENSP00000502373.1:n.*49C>A
ENST00000676259.1:c.*192C>A	ENSP00000501980.1:n.*192C>A
ENST00000676403.1:c.760C>A	ENSP00000502681.1:p.Leu254Ile
ENST00000389266.7:c.760C>A	ENSP00000373918.3:p.Leu254Ile
ENST00000478124.5:n.798C>A
NM_001316772.1:c.598C>A	NP_001303701.1:p.Leu200Ile
NM_002047.2:c.760C>A , LRG_243t1:c.760C>A	NP_002038.2:p.Leu254Ile
NM_002047.3:c.760C>A	NP_002038.2:p.Leu254Ile
XM_006715686.1:c.391C>A	XP_006715749.1:p.Leu131Ile
XM_006715686.2:c.391C>A	XP_006715749.1:p.Leu131Ile
NM_002047.4:c.760C>A MANE Select	NP_002038.2:p.Leu254Ile