Canonical Allele Identifier: CA4206026
Community Standard Title: NM_002047.4(GARS1):c.1694T>A (p.Leu565Gln)
Gene: GARS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.30626314T>A , CM000669.2:g.30626314T>A GRCh38
NC_000007.13:g.30665930T>A , CM000669.1:g.30665930T>A GRCh37
NC_000007.12:g.30632455T>A NCBI36
NG_007942.1:g.36750T>A , LRG_243:g.36750T>A

Transcript Alleles

HGVS Amino-acid Change
NM_002047.4:c.1694T>A MANE Select NP_002038.2:p.Leu565Gln
ENST00000389266.8:c.1694T>A MANE Select ENSP00000373918.3:p.Leu565Gln
NM_001316772.1:c.1532T>A NP_001303701.1:p.Leu511Gln
NM_002047.2:c.1694T>A , LRG_243t1:c.1694T>A NP_002038.2:p.Leu565Gln
NM_002047.3:c.1694T>A NP_002038.2:p.Leu565Gln
ENST00000389266.7:c.1694T>A ENSP00000373918.3:p.Leu565Gln
ENST00000444666.5:c.215T>A ENSP00000415447.1:p.Leu72Gln
ENST00000444666.6:c.1694T>A ENSP00000415447.2:p.Leu565Gln
ENST00000470392.1:n.416T>A
ENST00000470392.2:n.1784T>A
ENST00000485784.2:n.1773T>A
ENST00000674616.1:c.*1408T>A ENSP00000502408.1:n.*1408T>A
ENST00000674643.1:c.*794T>A ENSP00000501636.1:n.*794T>A
ENST00000674737.1:c.*1032T>A ENSP00000502464.1:n.*1032T>A
ENST00000674807.1:c.1614-2246T>A ENSP00000502814.1:n.1614-2246T>A
ENST00000674815.1:c.1325T>A ENSP00000502799.1:p.Leu442Gln
ENST00000674851.1:c.1325T>A ENSP00000502451.1:p.Leu442Gln
ENST00000674969.1:n.3567T>A
ENST00000675051.1:c.1493T>A ENSP00000502296.1:p.Leu498Gln
ENST00000675529.1:c.*1564T>A ENSP00000501655.1:n.*1564T>A
ENST00000675587.1:n.2526T>A
ENST00000675651.1:c.1694T>A ENSP00000502513.1:p.Leu565Gln
ENST00000675693.1:c.1526T>A ENSP00000502174.1:p.Leu509Gln
ENST00000675810.1:c.1592T>A ENSP00000502743.1:p.Leu531Gln
ENST00000675859.1:c.1614-2246T>A ENSP00000502033.1:n.1614-2246T>A
ENST00000675863.1:n.1702T>A
ENST00000675886.1:n.7734T>A
ENST00000676088.1:c.*1636T>A ENSP00000501884.1:n.*1636T>A
ENST00000676140.1:c.*639T>A ENSP00000502571.1:n.*639T>A
ENST00000676164.1:c.*1145T>A ENSP00000501986.1:n.*1145T>A
ENST00000676210.1:c.*983T>A ENSP00000502373.1:n.*983T>A
ENST00000676259.1:c.*1126T>A ENSP00000501980.1:n.*1126T>A
ENST00000676403.1:c.1694T>A ENSP00000502681.1:p.Leu565Gln
XM_006715686.1:c.1325T>A XP_006715749.1:p.Leu442Gln
XM_006715686.2:c.1325T>A XP_006715749.1:p.Leu442Gln