Canonical Allele Identifier: CA367128155

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661055T>G (hg19) ; chr7:g.30621439T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621439T>G , CM000669.2:g.30621439T>G	GRCh38
NC_000007.13:g.30661055T>G , CM000669.1:g.30661055T>G	GRCh37
NC_000007.12:g.30627580T>G	NCBI36
NG_007942.1:g.31875T>G , LRG_243:g.31875T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1406T>G MANE Select	ENSP00000373918.3:p.Leu469Arg
ENST00000444666.6:c.1406T>G	ENSP00000415447.2:p.Leu469Arg
ENST00000470392.2:n.1496T>G
ENST00000478124.6:n.1469T>G
ENST00000485784.2:n.1485T>G
ENST00000674616.1:c.*1120T>G	ENSP00000502408.1:n.*1120T>G
ENST00000674643.1:c.*506T>G	ENSP00000501636.1:n.*506T>G
ENST00000674734.1:n.1902T>G
ENST00000674737.1:c.*744T>G	ENSP00000502464.1:n.*744T>G
ENST00000674807.1:c.1406T>G	ENSP00000502814.1:p.Leu469Arg
ENST00000674815.1:c.1037T>G	ENSP00000502799.1:p.Leu346Arg
ENST00000674851.1:c.1037T>G	ENSP00000502451.1:p.Leu346Arg
ENST00000674969.1:n.3279T>G
ENST00000675051.1:c.1205T>G	ENSP00000502296.1:p.Leu402Arg
ENST00000675529.1:c.*1276T>G	ENSP00000501655.1:n.*1276T>G
ENST00000675587.1:n.1422T>G
ENST00000675651.1:c.1406T>G	ENSP00000502513.1:p.Leu469Arg
ENST00000675693.1:c.1238T>G	ENSP00000502174.1:p.Leu413Arg
ENST00000675810.1:c.1304T>G	ENSP00000502743.1:p.Leu435Arg
ENST00000675859.1:c.1406T>G	ENSP00000502033.1:p.Leu469Arg
ENST00000675863.1:n.1414T>G
ENST00000675886.1:n.7446T>G
ENST00000676088.1:c.*1348T>G	ENSP00000501884.1:n.*1348T>G
ENST00000676140.1:c.*351T>G	ENSP00000502571.1:n.*351T>G
ENST00000676164.1:c.*857T>G	ENSP00000501986.1:n.*857T>G
ENST00000676210.1:c.*695T>G	ENSP00000502373.1:n.*695T>G
ENST00000676259.1:c.*838T>G	ENSP00000501980.1:n.*838T>G
ENST00000676403.1:c.1406T>G	ENSP00000502681.1:p.Leu469Arg
ENST00000389266.7:c.1406T>G	ENSP00000373918.3:p.Leu469Arg
ENST00000478124.5:n.1444T>G
ENST00000484093.1:n.405T>G
NM_001316772.1:c.1244T>G	NP_001303701.1:p.Leu415Arg
NM_002047.2:c.1406T>G , LRG_243t1:c.1406T>G	NP_002038.2:p.Leu469Arg
NM_002047.3:c.1406T>G	NP_002038.2:p.Leu469Arg
XM_006715686.1:c.1037T>G	XP_006715749.1:p.Leu346Arg
XM_006715686.2:c.1037T>G	XP_006715749.1:p.Leu346Arg
NM_002047.4:c.1406T>G MANE Select	NP_002038.2:p.Leu469Arg