Canonical Allele Identifier: CA367128302

Gene: GARS1

Linked Data

• MyVariant Identifiers: chr7:g.30661088T>C (hg19) ; chr7:g.30621472T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621472T>C , CM000669.2:g.30621472T>C	GRCh38
NC_000007.13:g.30661088T>C , CM000669.1:g.30661088T>C	GRCh37
NC_000007.12:g.30627613T>C	NCBI36
NG_007942.1:g.31908T>C , LRG_243:g.31908T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1439T>C MANE Select	ENSP00000373918.3:p.Leu480Pro
ENST00000444666.6:c.1439T>C	ENSP00000415447.2:p.Leu480Pro
ENST00000470392.2:n.1529T>C
ENST00000478124.6:n.1502T>C
ENST00000485784.2:n.1518T>C
ENST00000674616.1:c.*1153T>C	ENSP00000502408.1:n.*1153T>C
ENST00000674643.1:c.*539T>C	ENSP00000501636.1:n.*539T>C
ENST00000674734.1:n.1935T>C
ENST00000674737.1:c.*777T>C	ENSP00000502464.1:n.*777T>C
ENST00000674807.1:c.1439T>C	ENSP00000502814.1:p.Leu480Pro
ENST00000674815.1:c.1070T>C	ENSP00000502799.1:p.Leu357Pro
ENST00000674851.1:c.1070T>C	ENSP00000502451.1:p.Leu357Pro
ENST00000674969.1:n.3312T>C
ENST00000675051.1:c.1238T>C	ENSP00000502296.1:p.Leu413Pro
ENST00000675529.1:c.*1309T>C	ENSP00000501655.1:n.*1309T>C
ENST00000675587.1:n.1455T>C
ENST00000675651.1:c.1439T>C	ENSP00000502513.1:p.Leu480Pro
ENST00000675693.1:c.1271T>C	ENSP00000502174.1:p.Leu424Pro
ENST00000675810.1:c.1337T>C	ENSP00000502743.1:p.Leu446Pro
ENST00000675859.1:c.1439T>C	ENSP00000502033.1:p.Leu480Pro
ENST00000675863.1:n.1447T>C
ENST00000675886.1:n.7479T>C
ENST00000676088.1:c.*1381T>C	ENSP00000501884.1:n.*1381T>C
ENST00000676140.1:c.*384T>C	ENSP00000502571.1:n.*384T>C
ENST00000676164.1:c.*890T>C	ENSP00000501986.1:n.*890T>C
ENST00000676210.1:c.*728T>C	ENSP00000502373.1:n.*728T>C
ENST00000676259.1:c.*871T>C	ENSP00000501980.1:n.*871T>C
ENST00000676403.1:c.1439T>C	ENSP00000502681.1:p.Leu480Pro
ENST00000389266.7:c.1439T>C	ENSP00000373918.3:p.Leu480Pro
ENST00000478124.5:n.1477T>C
ENST00000484093.1:n.438T>C
NM_001316772.1:c.1277T>C	NP_001303701.1:p.Leu426Pro
NM_002047.2:c.1439T>C , LRG_243t1:c.1439T>C	NP_002038.2:p.Leu480Pro
NM_002047.3:c.1439T>C	NP_002038.2:p.Leu480Pro
XM_006715686.1:c.1070T>C	XP_006715749.1:p.Leu357Pro
XM_006715686.2:c.1070T>C	XP_006715749.1:p.Leu357Pro
NM_002047.4:c.1439T>C MANE Select	NP_002038.2:p.Leu480Pro