Canonical Allele Identifier: CA367125607

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30651857G>C (hg19) ; chr7:g.30612241G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30612241G>C , CM000669.2:g.30612241G>C	GRCh38
NC_000007.13:g.30651857G>C , CM000669.1:g.30651857G>C	GRCh37
NC_000007.12:g.30618382G>C	NCBI36
NG_007942.1:g.22677G>C , LRG_243:g.22677G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1027G>C MANE Select	ENSP00000373918.3:p.Val343Leu
ENST00000444666.6:c.1027G>C	ENSP00000415447.2:p.Val343Leu
ENST00000470392.2:n.1117G>C
ENST00000478124.6:n.1090G>C
ENST00000485784.2:n.1106G>C
ENST00000674616.1:c.*741G>C	ENSP00000502408.1:n.*741G>C
ENST00000674643.1:c.1027G>C	ENSP00000501636.1:p.Val343Leu
ENST00000674734.1:n.1523G>C
ENST00000674737.1:c.*365G>C	ENSP00000502464.1:n.*365G>C
ENST00000674807.1:c.1027G>C	ENSP00000502814.1:p.Val343Leu
ENST00000674815.1:c.658G>C	ENSP00000502799.1:p.Val220Leu
ENST00000674851.1:c.658G>C	ENSP00000502451.1:p.Val220Leu
ENST00000674969.1:n.2900G>C
ENST00000675051.1:c.826G>C	ENSP00000502296.1:p.Val276Leu
ENST00000675529.1:c.*897G>C	ENSP00000501655.1:n.*897G>C
ENST00000675587.1:n.1043G>C
ENST00000675651.1:c.1027G>C	ENSP00000502513.1:p.Val343Leu
ENST00000675693.1:c.859G>C	ENSP00000502174.1:p.Val287Leu
ENST00000675810.1:c.925G>C	ENSP00000502743.1:p.Val309Leu
ENST00000675859.1:c.1027G>C	ENSP00000502033.1:p.Val343Leu
ENST00000675863.1:n.1035G>C
ENST00000675886.1:n.7067G>C
ENST00000676088.1:c.*969G>C	ENSP00000501884.1:n.*969G>C
ENST00000676140.1:c.1027G>C	ENSP00000502571.1:p.Val343Leu
ENST00000676164.1:c.*478G>C	ENSP00000501986.1:n.*478G>C
ENST00000676210.1:c.*316G>C	ENSP00000502373.1:n.*316G>C
ENST00000676259.1:c.*459G>C	ENSP00000501980.1:n.*459G>C
ENST00000676403.1:c.1027G>C	ENSP00000502681.1:p.Val343Leu
ENST00000389266.7:c.1027G>C	ENSP00000373918.3:p.Val343Leu
ENST00000478124.5:n.1065G>C
NM_001316772.1:c.865G>C	NP_001303701.1:p.Val289Leu
NM_002047.2:c.1027G>C , LRG_243t1:c.1027G>C	NP_002038.2:p.Val343Leu
NM_002047.3:c.1027G>C	NP_002038.2:p.Val343Leu
XM_006715686.1:c.658G>C	XP_006715749.1:p.Val220Leu
XM_006715686.2:c.658G>C	XP_006715749.1:p.Val220Leu
NM_002047.4:c.1027G>C MANE Select	NP_002038.2:p.Val343Leu