Canonical Allele Identifier: CA367124978

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651762T>C (hg19) ; chr7:g.30612146T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612146T>C , CM000669.2:g.30612146T>C	GRCh38
NC_000007.13:g.30651762T>C , CM000669.1:g.30651762T>C	GRCh37
NC_000007.12:g.30618287T>C	NCBI36
NG_007942.1:g.22582T>C , LRG_243:g.22582T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.932T>C MANE Select	ENSP00000373918.3:p.Leu311Pro
ENST00000444666.6:c.932T>C	ENSP00000415447.2:p.Leu311Pro
ENST00000470392.2:n.1022T>C
ENST00000478124.6:n.995T>C
ENST00000485784.2:n.1011T>C
ENST00000674616.1:c.*646T>C	ENSP00000502408.1:n.*646T>C
ENST00000674643.1:c.932T>C	ENSP00000501636.1:p.Leu311Pro
ENST00000674734.1:n.1428T>C
ENST00000674737.1:c.*270T>C	ENSP00000502464.1:n.*270T>C
ENST00000674807.1:c.932T>C	ENSP00000502814.1:p.Leu311Pro
ENST00000674815.1:c.563T>C	ENSP00000502799.1:p.Leu188Pro
ENST00000674851.1:c.563T>C	ENSP00000502451.1:p.Leu188Pro
ENST00000674969.1:n.2805T>C
ENST00000675051.1:c.731T>C	ENSP00000502296.1:p.Leu244Pro
ENST00000675529.1:c.*802T>C	ENSP00000501655.1:n.*802T>C
ENST00000675587.1:n.948T>C
ENST00000675651.1:c.932T>C	ENSP00000502513.1:p.Leu311Pro
ENST00000675693.1:c.764T>C	ENSP00000502174.1:p.Leu255Pro
ENST00000675810.1:c.830T>C	ENSP00000502743.1:p.Leu277Pro
ENST00000675859.1:c.932T>C	ENSP00000502033.1:p.Leu311Pro
ENST00000675863.1:n.940T>C
ENST00000675886.1:n.6972T>C
ENST00000676088.1:c.*874T>C	ENSP00000501884.1:n.*874T>C
ENST00000676140.1:c.932T>C	ENSP00000502571.1:p.Leu311Pro
ENST00000676164.1:c.*383T>C	ENSP00000501986.1:n.*383T>C
ENST00000676210.1:c.*221T>C	ENSP00000502373.1:n.*221T>C
ENST00000676259.1:c.*364T>C	ENSP00000501980.1:n.*364T>C
ENST00000676403.1:c.932T>C	ENSP00000502681.1:p.Leu311Pro
ENST00000389266.7:c.932T>C	ENSP00000373918.3:p.Leu311Pro
ENST00000478124.5:n.970T>C
NM_001316772.1:c.770T>C	NP_001303701.1:p.Leu257Pro
NM_002047.2:c.932T>C , LRG_243t1:c.932T>C	NP_002038.2:p.Leu311Pro
NM_002047.3:c.932T>C	NP_002038.2:p.Leu311Pro
XM_006715686.1:c.563T>C	XP_006715749.1:p.Leu188Pro
XM_006715686.2:c.563T>C	XP_006715749.1:p.Leu188Pro
NM_002047.4:c.932T>C MANE Select	NP_002038.2:p.Leu311Pro