Canonical Allele Identifier: CA16604871
Gene: LARS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 388496
ClinVar RCV Id: RCV000434832
dbSNP Id: rs1057523128
MyVariant Identifiers: chr5:g.145531544C>T (hg19) chr5:g.146151981C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.146151981C>T , CM000667.2:g.146151981C>T GRCh38
NC_000005.9:g.145531544C>T , CM000667.1:g.145531544C>T GRCh37
NC_000005.8:g.145511737C>T NCBI36
NG_042294.1:g.35751G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000394434.7:c.1306G>A MANE Select ENSP00000377954.2:p.Gly436Ser
ENST00000512412.2:n.1483G>A
ENST00000618084.2:n.1473G>A
ENST00000674158.1:c.925G>A ENSP00000501474.1:p.Gly309Ser
ENST00000674170.1:c.1306G>A ENSP00000501381.1:p.Gly436Ser
ENST00000674174.1:c.1144G>A ENSP00000501434.1:p.Gly382Ser
ENST00000674191.1:c.850G>A ENSP00000501478.1:p.Gly284Ser
ENST00000674218.1:n.1483G>A
ENST00000674270.1:c.1168G>A ENSP00000501365.1:p.Gly390Ser
ENST00000674277.1:c.1144G>A ENSP00000501510.1:p.Gly382Ser
ENST00000674290.1:c.1306G>A ENSP00000501435.1:p.Gly436Ser
ENST00000674309.1:c.1306G>A ENSP00000501400.1:p.Gly436Ser
ENST00000674310.1:c.1306G>A ENSP00000501486.1:p.Gly436Ser
ENST00000674383.1:n.1349G>A
ENST00000674398.1:c.1306G>A ENSP00000501476.1:p.Gly436Ser
ENST00000674412.1:n.1326G>A
ENST00000674417.1:n.1476G>A
ENST00000674447.1:c.1225G>A ENSP00000501376.1:p.Gly409Ser
ENST00000674450.1:n.1325G>A
ENST00000674467.1:c.1306G>A ENSP00000501351.1:p.Gly436Ser
ENST00000674479.1:n.1483G>A
ENST00000274562.13:c.-102-8991G>A ENSP00000274562.10:n.-102-8991G>A
ENST00000394434.6:c.1306G>A ENSP00000377954.2:p.Gly436Ser
ENST00000510191.5:c.1144G>A ENSP00000426005.1:p.Gly382Ser
NM_020117.9:c.1306G>A NP_064502.9:p.Gly436Ser
XM_011537655.1:c.1168G>A XP_011535957.1:p.Gly390Ser
XM_011537656.1:c.1144G>A XP_011535958.1:p.Gly382Ser
XM_011537657.1:c.1306G>A XP_011535959.1:p.Gly436Ser
NM_001317964.1:c.1168G>A NP_001304893.1:p.Gly390Ser
NM_001317965.1:c.1144G>A NP_001304894.1:p.Gly382Ser
NM_016460.3:c.1225G>A NP_057544.2:p.Gly409Ser
NM_020117.10:c.1306G>A NP_064502.9:p.Gly436Ser
XM_011537656.3:c.1144G>A XP_011535958.1:p.Gly382Ser
NM_020117.11:c.1306G>A MANE Select NP_064502.9:p.Gly436Ser
NM_001317964.2:c.1168G>A NP_001304893.1:p.Gly390Ser
NM_001317965.2:c.1144G>A NP_001304894.1:p.Gly382Ser
NM_016460.4:c.1225G>A NP_057544.2:p.Gly409Ser
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