Canonical Allele Identifier: CA367128083

Gene: GARS1

Linked Data

• COSMIC: COSM3637898
• MyVariant Identifiers: chr7:g.30661043C>T (hg19) ; chr7:g.30621427C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.30621427C>T , CM000669.2:g.30621427C>T	GRCh38
NC_000007.13:g.30661043C>T , CM000669.1:g.30661043C>T	GRCh37
NC_000007.12:g.30627568C>T	NCBI36
NG_007942.1:g.31863C>T , LRG_243:g.31863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389266.8:c.1394C>T MANE Select	ENSP00000373918.3:p.Ser465Phe
ENST00000444666.6:c.1394C>T	ENSP00000415447.2:p.Ser465Phe
ENST00000470392.2:n.1484C>T
ENST00000478124.6:n.1457C>T
ENST00000485784.2:n.1473C>T
ENST00000674616.1:c.*1108C>T	ENSP00000502408.1:n.*1108C>T
ENST00000674643.1:c.*494C>T	ENSP00000501636.1:n.*494C>T
ENST00000674734.1:n.1890C>T
ENST00000674737.1:c.*732C>T	ENSP00000502464.1:n.*732C>T
ENST00000674807.1:c.1394C>T	ENSP00000502814.1:p.Ser465Phe
ENST00000674815.1:c.1025C>T	ENSP00000502799.1:p.Ser342Phe
ENST00000674851.1:c.1025C>T	ENSP00000502451.1:p.Ser342Phe
ENST00000674969.1:n.3267C>T
ENST00000675051.1:c.1193C>T	ENSP00000502296.1:p.Ser398Phe
ENST00000675529.1:c.*1264C>T	ENSP00000501655.1:n.*1264C>T
ENST00000675587.1:n.1410C>T
ENST00000675651.1:c.1394C>T	ENSP00000502513.1:p.Ser465Phe
ENST00000675693.1:c.1226C>T	ENSP00000502174.1:p.Ser409Phe
ENST00000675810.1:c.1292C>T	ENSP00000502743.1:p.Ser431Phe
ENST00000675859.1:c.1394C>T	ENSP00000502033.1:p.Ser465Phe
ENST00000675863.1:n.1402C>T
ENST00000675886.1:n.7434C>T
ENST00000676088.1:c.*1336C>T	ENSP00000501884.1:n.*1336C>T
ENST00000676140.1:c.*339C>T	ENSP00000502571.1:n.*339C>T
ENST00000676164.1:c.*845C>T	ENSP00000501986.1:n.*845C>T
ENST00000676210.1:c.*683C>T	ENSP00000502373.1:n.*683C>T
ENST00000676259.1:c.*826C>T	ENSP00000501980.1:n.*826C>T
ENST00000676403.1:c.1394C>T	ENSP00000502681.1:p.Ser465Phe
ENST00000389266.7:c.1394C>T	ENSP00000373918.3:p.Ser465Phe
ENST00000478124.5:n.1432C>T
ENST00000484093.1:n.393C>T
NM_001316772.1:c.1232C>T	NP_001303701.1:p.Ser411Phe
NM_002047.2:c.1394C>T , LRG_243t1:c.1394C>T	NP_002038.2:p.Ser465Phe
NM_002047.3:c.1394C>T	NP_002038.2:p.Ser465Phe
XM_006715686.1:c.1025C>T	XP_006715749.1:p.Ser342Phe
XM_006715686.2:c.1025C>T	XP_006715749.1:p.Ser342Phe
NM_002047.4:c.1394C>T MANE Select	NP_002038.2:p.Ser465Phe