Canonical Allele Identifier: CA367128382

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661106T>G (hg19) ; chr7:g.30621490T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621490T>G , CM000669.2:g.30621490T>G	GRCh38
NC_000007.13:g.30661106T>G , CM000669.1:g.30661106T>G	GRCh37
NC_000007.12:g.30627631T>G	NCBI36
NG_007942.1:g.31926T>G , LRG_243:g.31926T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1457T>G MANE Select	ENSP00000373918.3:p.Leu486Arg
ENST00000444666.6:c.1457T>G	ENSP00000415447.2:p.Leu486Arg
ENST00000470392.2:n.1547T>G
ENST00000478124.6:n.1520T>G
ENST00000485784.2:n.1536T>G
ENST00000674616.1:c.*1171T>G	ENSP00000502408.1:n.*1171T>G
ENST00000674643.1:c.*557T>G	ENSP00000501636.1:n.*557T>G
ENST00000674734.1:n.1953T>G
ENST00000674737.1:c.*795T>G	ENSP00000502464.1:n.*795T>G
ENST00000674807.1:c.1457T>G	ENSP00000502814.1:p.Leu486Arg
ENST00000674815.1:c.1088T>G	ENSP00000502799.1:p.Leu363Arg
ENST00000674851.1:c.1088T>G	ENSP00000502451.1:p.Leu363Arg
ENST00000674969.1:n.3330T>G
ENST00000675051.1:c.1256T>G	ENSP00000502296.1:p.Leu419Arg
ENST00000675529.1:c.*1327T>G	ENSP00000501655.1:n.*1327T>G
ENST00000675587.1:n.1473T>G
ENST00000675651.1:c.1457T>G	ENSP00000502513.1:p.Leu486Arg
ENST00000675693.1:c.1289T>G	ENSP00000502174.1:p.Leu430Arg
ENST00000675810.1:c.1355T>G	ENSP00000502743.1:p.Leu452Arg
ENST00000675859.1:c.1457T>G	ENSP00000502033.1:p.Leu486Arg
ENST00000675863.1:n.1465T>G
ENST00000675886.1:n.7497T>G
ENST00000676088.1:c.*1399T>G	ENSP00000501884.1:n.*1399T>G
ENST00000676140.1:c.*402T>G	ENSP00000502571.1:n.*402T>G
ENST00000676164.1:c.*908T>G	ENSP00000501986.1:n.*908T>G
ENST00000676210.1:c.*746T>G	ENSP00000502373.1:n.*746T>G
ENST00000676259.1:c.*889T>G	ENSP00000501980.1:n.*889T>G
ENST00000676403.1:c.1457T>G	ENSP00000502681.1:p.Leu486Arg
ENST00000389266.7:c.1457T>G	ENSP00000373918.3:p.Leu486Arg
ENST00000478124.5:n.1495T>G
ENST00000484093.1:n.456T>G
NM_001316772.1:c.1295T>G	NP_001303701.1:p.Leu432Arg
NM_002047.2:c.1457T>G , LRG_243t1:c.1457T>G	NP_002038.2:p.Leu486Arg
NM_002047.3:c.1457T>G	NP_002038.2:p.Leu486Arg
XM_006715686.1:c.1088T>G	XP_006715749.1:p.Leu363Arg
XM_006715686.2:c.1088T>G	XP_006715749.1:p.Leu363Arg
NM_002047.4:c.1457T>G MANE Select	NP_002038.2:p.Leu486Arg