Canonical Allele Identifier: CA367124988

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651766G>T (hg19) ; chr7:g.30612150G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612150G>T , CM000669.2:g.30612150G>T	GRCh38
NC_000007.13:g.30651766G>T , CM000669.1:g.30651766G>T	GRCh37
NC_000007.12:g.30618291G>T	NCBI36
NG_007942.1:g.22586G>T , LRG_243:g.22586G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.936G>T MANE Select	ENSP00000373918.3:p.Leu312Phe
ENST00000444666.6:c.936G>T	ENSP00000415447.2:p.Leu312Phe
ENST00000470392.2:n.1026G>T
ENST00000478124.6:n.999G>T
ENST00000485784.2:n.1015G>T
ENST00000674616.1:c.*650G>T	ENSP00000502408.1:n.*650G>T
ENST00000674643.1:c.936G>T	ENSP00000501636.1:p.Leu312Phe
ENST00000674734.1:n.1432G>T
ENST00000674737.1:c.*274G>T	ENSP00000502464.1:n.*274G>T
ENST00000674807.1:c.936G>T	ENSP00000502814.1:p.Leu312Phe
ENST00000674815.1:c.567G>T	ENSP00000502799.1:p.Leu189Phe
ENST00000674851.1:c.567G>T	ENSP00000502451.1:p.Leu189Phe
ENST00000674969.1:n.2809G>T
ENST00000675051.1:c.735G>T	ENSP00000502296.1:p.Leu245Phe
ENST00000675529.1:c.*806G>T	ENSP00000501655.1:n.*806G>T
ENST00000675587.1:n.952G>T
ENST00000675651.1:c.936G>T	ENSP00000502513.1:p.Leu312Phe
ENST00000675693.1:c.768G>T	ENSP00000502174.1:p.Leu256Phe
ENST00000675810.1:c.834G>T	ENSP00000502743.1:p.Leu278Phe
ENST00000675859.1:c.936G>T	ENSP00000502033.1:p.Leu312Phe
ENST00000675863.1:n.944G>T
ENST00000675886.1:n.6976G>T
ENST00000676088.1:c.*878G>T	ENSP00000501884.1:n.*878G>T
ENST00000676140.1:c.936G>T	ENSP00000502571.1:p.Leu312Phe
ENST00000676164.1:c.*387G>T	ENSP00000501986.1:n.*387G>T
ENST00000676210.1:c.*225G>T	ENSP00000502373.1:n.*225G>T
ENST00000676259.1:c.*368G>T	ENSP00000501980.1:n.*368G>T
ENST00000676403.1:c.936G>T	ENSP00000502681.1:p.Leu312Phe
ENST00000389266.7:c.936G>T	ENSP00000373918.3:p.Leu312Phe
ENST00000478124.5:n.974G>T
NM_001316772.1:c.774G>T	NP_001303701.1:p.Leu258Phe
NM_002047.2:c.936G>T , LRG_243t1:c.936G>T	NP_002038.2:p.Leu312Phe
NM_002047.3:c.936G>T	NP_002038.2:p.Leu312Phe
XM_006715686.1:c.567G>T	XP_006715749.1:p.Leu189Phe
XM_006715686.2:c.567G>T	XP_006715749.1:p.Leu189Phe
NM_002047.4:c.936G>T MANE Select	NP_002038.2:p.Leu312Phe