Canonical Allele Identifier: CA367124670

Gene: GARS1

Linked Data

• dbSNP Id: rs1791558791
• MyVariant Identifiers: chr7:g.30649328C>T (hg19) ; chr7:g.30609712C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30609712C>T , CM000669.2:g.30609712C>T	GRCh38
NC_000007.13:g.30649328C>T , CM000669.1:g.30649328C>T	GRCh37
NC_000007.12:g.30615853C>T	NCBI36
NG_007942.1:g.20148C>T , LRG_243:g.20148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.863C>T MANE Select	ENSP00000373918.3:p.Pro288Leu
ENST00000444666.6:c.863C>T	ENSP00000415447.2:p.Pro288Leu
ENST00000470392.2:n.953C>T
ENST00000478124.6:n.926C>T
ENST00000485784.2:n.942C>T
ENST00000674616.1:c.*577C>T	ENSP00000502408.1:n.*577C>T
ENST00000674643.1:c.863C>T	ENSP00000501636.1:p.Pro288Leu
ENST00000674734.1:n.1359C>T
ENST00000674737.1:c.*201C>T	ENSP00000502464.1:n.*201C>T
ENST00000674807.1:c.863C>T	ENSP00000502814.1:p.Pro288Leu
ENST00000674815.1:c.494C>T	ENSP00000502799.1:p.Pro165Leu
ENST00000674851.1:c.494C>T	ENSP00000502451.1:p.Pro165Leu
ENST00000674969.1:n.2736C>T
ENST00000675051.1:c.662C>T	ENSP00000502296.1:p.Pro221Leu
ENST00000675529.1:c.*733C>T	ENSP00000501655.1:n.*733C>T
ENST00000675587.1:n.879C>T
ENST00000675651.1:c.863C>T	ENSP00000502513.1:p.Pro288Leu
ENST00000675693.1:c.695C>T	ENSP00000502174.1:p.Pro232Leu
ENST00000675810.1:c.761C>T	ENSP00000502743.1:p.Pro254Leu
ENST00000675859.1:c.863C>T	ENSP00000502033.1:p.Pro288Leu
ENST00000675863.1:n.871C>T
ENST00000675886.1:n.6903C>T
ENST00000676088.1:c.*805C>T	ENSP00000501884.1:n.*805C>T
ENST00000676140.1:c.863C>T	ENSP00000502571.1:p.Pro288Leu
ENST00000676164.1:c.*314C>T	ENSP00000501986.1:n.*314C>T
ENST00000676210.1:c.*152C>T	ENSP00000502373.1:n.*152C>T
ENST00000676259.1:c.*295C>T	ENSP00000501980.1:n.*295C>T
ENST00000676403.1:c.863C>T	ENSP00000502681.1:p.Pro288Leu
ENST00000389266.7:c.863C>T	ENSP00000373918.3:p.Pro288Leu
ENST00000478124.5:n.901C>T
NM_001316772.1:c.701C>T	NP_001303701.1:p.Pro234Leu
NM_002047.2:c.863C>T , LRG_243t1:c.863C>T	NP_002038.2:p.Pro288Leu
NM_002047.3:c.863C>T	NP_002038.2:p.Pro288Leu
XM_006715686.1:c.494C>T	XP_006715749.1:p.Pro165Leu
XM_006715686.2:c.494C>T	XP_006715749.1:p.Pro165Leu
NM_002047.4:c.863C>T MANE Select	NP_002038.2:p.Pro288Leu