Canonical Allele Identifier: CA367129420

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665908G>T (hg19) ; chr7:g.30626292G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626292G>T , CM000669.2:g.30626292G>T	GRCh38
NC_000007.13:g.30665908G>T , CM000669.1:g.30665908G>T	GRCh37
NC_000007.12:g.30632433G>T	NCBI36
NG_007942.1:g.36728G>T , LRG_243:g.36728G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1672G>T MANE Select	ENSP00000373918.3:p.Val558Leu
ENST00000444666.6:c.1672G>T	ENSP00000415447.2:p.Val558Leu
ENST00000470392.2:n.1762G>T
ENST00000485784.2:n.1751G>T
ENST00000674616.1:c.*1386G>T	ENSP00000502408.1:n.*1386G>T
ENST00000674643.1:c.*772G>T	ENSP00000501636.1:n.*772G>T
ENST00000674737.1:c.*1010G>T	ENSP00000502464.1:n.*1010G>T
ENST00000674807.1:c.1614-2268G>T	ENSP00000502814.1:n.1614-2268G>T
ENST00000674815.1:c.1303G>T	ENSP00000502799.1:p.Val435Leu
ENST00000674851.1:c.1303G>T	ENSP00000502451.1:p.Val435Leu
ENST00000674969.1:n.3545G>T
ENST00000675051.1:c.1471G>T	ENSP00000502296.1:p.Val491Leu
ENST00000675529.1:c.*1542G>T	ENSP00000501655.1:n.*1542G>T
ENST00000675587.1:n.2504G>T
ENST00000675651.1:c.1672G>T	ENSP00000502513.1:p.Val558Leu
ENST00000675693.1:c.1504G>T	ENSP00000502174.1:p.Val502Leu
ENST00000675810.1:c.1570G>T	ENSP00000502743.1:p.Val524Leu
ENST00000675859.1:c.1614-2268G>T	ENSP00000502033.1:n.1614-2268G>T
ENST00000675863.1:n.1680G>T
ENST00000675886.1:n.7712G>T
ENST00000676088.1:c.*1614G>T	ENSP00000501884.1:n.*1614G>T
ENST00000676140.1:c.*617G>T	ENSP00000502571.1:n.*617G>T
ENST00000676164.1:c.*1123G>T	ENSP00000501986.1:n.*1123G>T
ENST00000676210.1:c.*961G>T	ENSP00000502373.1:n.*961G>T
ENST00000676259.1:c.*1104G>T	ENSP00000501980.1:n.*1104G>T
ENST00000676403.1:c.1672G>T	ENSP00000502681.1:p.Val558Leu
ENST00000389266.7:c.1672G>T	ENSP00000373918.3:p.Val558Leu
ENST00000444666.5:c.193G>T	ENSP00000415447.1:p.Val65Leu
ENST00000470392.1:n.394G>T
NM_001316772.1:c.1510G>T	NP_001303701.1:p.Val504Leu
NM_002047.2:c.1672G>T , LRG_243t1:c.1672G>T	NP_002038.2:p.Val558Leu
NM_002047.3:c.1672G>T	NP_002038.2:p.Val558Leu
XM_006715686.1:c.1303G>T	XP_006715749.1:p.Val435Leu
XM_006715686.2:c.1303G>T	XP_006715749.1:p.Val435Leu
NM_002047.4:c.1672G>T MANE Select	NP_002038.2:p.Val558Leu