Canonical Allele Identifier: CA367124975

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651761C>T (hg19) ; chr7:g.30612145C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612145C>T , CM000669.2:g.30612145C>T	GRCh38
NC_000007.13:g.30651761C>T , CM000669.1:g.30651761C>T	GRCh37
NC_000007.12:g.30618286C>T	NCBI36
NG_007942.1:g.22581C>T , LRG_243:g.22581C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.931C>T MANE Select	ENSP00000373918.3:p.Leu311Phe
ENST00000444666.6:c.931C>T	ENSP00000415447.2:p.Leu311Phe
ENST00000470392.2:n.1021C>T
ENST00000478124.6:n.994C>T
ENST00000485784.2:n.1010C>T
ENST00000674616.1:c.*645C>T	ENSP00000502408.1:n.*645C>T
ENST00000674643.1:c.931C>T	ENSP00000501636.1:p.Leu311Phe
ENST00000674734.1:n.1427C>T
ENST00000674737.1:c.*269C>T	ENSP00000502464.1:n.*269C>T
ENST00000674807.1:c.931C>T	ENSP00000502814.1:p.Leu311Phe
ENST00000674815.1:c.562C>T	ENSP00000502799.1:p.Leu188Phe
ENST00000674851.1:c.562C>T	ENSP00000502451.1:p.Leu188Phe
ENST00000674969.1:n.2804C>T
ENST00000675051.1:c.730C>T	ENSP00000502296.1:p.Leu244Phe
ENST00000675529.1:c.*801C>T	ENSP00000501655.1:n.*801C>T
ENST00000675587.1:n.947C>T
ENST00000675651.1:c.931C>T	ENSP00000502513.1:p.Leu311Phe
ENST00000675693.1:c.763C>T	ENSP00000502174.1:p.Leu255Phe
ENST00000675810.1:c.829C>T	ENSP00000502743.1:p.Leu277Phe
ENST00000675859.1:c.931C>T	ENSP00000502033.1:p.Leu311Phe
ENST00000675863.1:n.939C>T
ENST00000675886.1:n.6971C>T
ENST00000676088.1:c.*873C>T	ENSP00000501884.1:n.*873C>T
ENST00000676140.1:c.931C>T	ENSP00000502571.1:p.Leu311Phe
ENST00000676164.1:c.*382C>T	ENSP00000501986.1:n.*382C>T
ENST00000676210.1:c.*220C>T	ENSP00000502373.1:n.*220C>T
ENST00000676259.1:c.*363C>T	ENSP00000501980.1:n.*363C>T
ENST00000676403.1:c.931C>T	ENSP00000502681.1:p.Leu311Phe
ENST00000389266.7:c.931C>T	ENSP00000373918.3:p.Leu311Phe
ENST00000478124.5:n.969C>T
NM_001316772.1:c.769C>T	NP_001303701.1:p.Leu257Phe
NM_002047.2:c.931C>T , LRG_243t1:c.931C>T	NP_002038.2:p.Leu311Phe
NM_002047.3:c.931C>T	NP_002038.2:p.Leu311Phe
XM_006715686.1:c.562C>T	XP_006715749.1:p.Leu188Phe
XM_006715686.2:c.562C>T	XP_006715749.1:p.Leu188Phe
NM_002047.4:c.931C>T MANE Select	NP_002038.2:p.Leu311Phe