Canonical Allele Identifier: CA367129405

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30665902A>C (hg19) ; chr7:g.30626286A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30626286A>C , CM000669.2:g.30626286A>C	GRCh38
NC_000007.13:g.30665902A>C , CM000669.1:g.30665902A>C	GRCh37
NC_000007.12:g.30632427A>C	NCBI36
NG_007942.1:g.36722A>C , LRG_243:g.36722A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389266.8:c.1666A>C MANE Select	ENSP00000373918.3:p.Ile556Leu
ENST00000444666.6:c.1666A>C	ENSP00000415447.2:p.Ile556Leu
ENST00000470392.2:n.1756A>C
ENST00000485784.2:n.1745A>C
ENST00000674616.1:c.*1380A>C	ENSP00000502408.1:n.*1380A>C
ENST00000674643.1:c.*766A>C	ENSP00000501636.1:n.*766A>C
ENST00000674737.1:c.*1004A>C	ENSP00000502464.1:n.*1004A>C
ENST00000674807.1:c.1614-2274A>C	ENSP00000502814.1:n.1614-2274A>C
ENST00000674815.1:c.1297A>C	ENSP00000502799.1:p.Ile433Leu
ENST00000674851.1:c.1297A>C	ENSP00000502451.1:p.Ile433Leu
ENST00000674969.1:n.3539A>C
ENST00000675051.1:c.1465A>C	ENSP00000502296.1:p.Ile489Leu
ENST00000675529.1:c.*1536A>C	ENSP00000501655.1:n.*1536A>C
ENST00000675587.1:n.2498A>C
ENST00000675651.1:c.1666A>C	ENSP00000502513.1:p.Ile556Leu
ENST00000675693.1:c.1498A>C	ENSP00000502174.1:p.Ile500Leu
ENST00000675810.1:c.1564A>C	ENSP00000502743.1:p.Ile522Leu
ENST00000675859.1:c.1614-2274A>C	ENSP00000502033.1:n.1614-2274A>C
ENST00000675863.1:n.1674A>C
ENST00000675886.1:n.7706A>C
ENST00000676088.1:c.*1608A>C	ENSP00000501884.1:n.*1608A>C
ENST00000676140.1:c.*611A>C	ENSP00000502571.1:n.*611A>C
ENST00000676164.1:c.*1117A>C	ENSP00000501986.1:n.*1117A>C
ENST00000676210.1:c.*955A>C	ENSP00000502373.1:n.*955A>C
ENST00000676259.1:c.*1098A>C	ENSP00000501980.1:n.*1098A>C
ENST00000676403.1:c.1666A>C	ENSP00000502681.1:p.Ile556Leu
ENST00000389266.7:c.1666A>C	ENSP00000373918.3:p.Ile556Leu
ENST00000444666.5:c.187A>C	ENSP00000415447.1:p.Ile63Leu
ENST00000470392.1:n.388A>C
NM_001316772.1:c.1504A>C	NP_001303701.1:p.Ile502Leu
NM_002047.2:c.1666A>C , LRG_243t1:c.1666A>C	NP_002038.2:p.Ile556Leu
NM_002047.3:c.1666A>C	NP_002038.2:p.Ile556Leu
XM_006715686.1:c.1297A>C	XP_006715749.1:p.Ile433Leu
XM_006715686.2:c.1297A>C	XP_006715749.1:p.Ile433Leu
NM_002047.4:c.1666A>C MANE Select	NP_002038.2:p.Ile556Leu