Canonical Allele Identifier: CA291869

Gene: LARS1

Linked Data

• ClinVar Variation Id: 138077
• ClinVar RCV Id: RCV000881879 ; RCV000986119 ; RCV001844044
• dbSNP Id: rs112954500
• ExAC: 5:145551522 T / C
• gnomAD v2: 5-145551522-T-C
• gnomAD v3: 5-146171959-T-C
• gnomAD v4: 5-146171959-T-C
• COSMIC: COSM3697057
• MyVariant Identifiers: chr5:g.145551522T>C (hg19) ; chr5:g.146171959T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146171959T>C , CM000667.2:g.146171959T>C	GRCh38
NC_000005.9:g.145551522T>C , CM000667.1:g.145551522T>C	GRCh37
NC_000005.8:g.145531715T>C	NCBI36
NG_042294.1:g.15773A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394434.7:c.245A>G MANE Select	ENSP00000377954.2:p.Lys82Arg
ENST00000505223.6:n.402A>G
ENST00000512412.2:n.422A>G
ENST00000618084.2:n.412A>G
ENST00000674158.1:c.51+728A>G	ENSP00000501474.1:n.51+728A>G
ENST00000674170.1:c.245A>G	ENSP00000501381.1:p.Lys82Arg
ENST00000674174.1:c.83A>G	ENSP00000501434.1:p.Lys28Arg
ENST00000674191.1:c.83A>G	ENSP00000501478.1:p.Lys28Arg
ENST00000674218.1:n.422A>G
ENST00000674270.1:c.245A>G	ENSP00000501365.1:p.Lys82Arg
ENST00000674277.1:c.83A>G	ENSP00000501510.1:p.Lys28Arg
ENST00000674290.1:c.245A>G	ENSP00000501435.1:p.Lys82Arg
ENST00000674309.1:c.245A>G	ENSP00000501400.1:p.Lys82Arg
ENST00000674310.1:c.245A>G	ENSP00000501486.1:p.Lys82Arg
ENST00000674383.1:n.337+728A>G
ENST00000674398.1:c.245A>G	ENSP00000501476.1:p.Lys82Arg
ENST00000674412.1:n.265A>G
ENST00000674417.1:n.415A>G
ENST00000674447.1:c.213+728A>G	ENSP00000501376.1:n.213+728A>G
ENST00000674450.1:n.402A>G
ENST00000674467.1:c.245A>G	ENSP00000501351.1:p.Lys82Arg
ENST00000674479.1:n.422A>G
ENST00000274562.13:c.-270A>G	ENSP00000274562.10:n.-270A>G
ENST00000394434.6:c.245A>G	ENSP00000377954.2:p.Lys82Arg
ENST00000503654.5:n.448A>G
ENST00000505223.5:n.370+728A>G
ENST00000510191.5:c.83A>G	ENSP00000426005.1:p.Lys28Arg
ENST00000511505.5:n.401A>G
ENST00000618084.1:c.245A>G	ENSP00000481381.1:p.Lys82Arg
NM_020117.9:c.245A>G	NP_064502.9:p.Lys82Arg
XM_011537655.1:c.245A>G	XP_011535957.1:p.Lys82Arg
XM_011537656.1:c.83A>G	XP_011535958.1:p.Lys28Arg
XM_011537657.1:c.245A>G	XP_011535959.1:p.Lys82Arg
NM_001317964.1:c.245A>G	NP_001304893.1:p.Lys82Arg
NM_001317965.1:c.83A>G	NP_001304894.1:p.Lys28Arg
NM_016460.3:c.213+728A>G	NP_057544.2:n.213+728A>G
NM_020117.10:c.245A>G	NP_064502.9:p.Lys82Arg
XM_011537656.3:c.83A>G	XP_011535958.1:p.Lys28Arg
NM_020117.11:c.245A>G MANE Select	NP_064502.9:p.Lys82Arg
NM_001317964.2:c.245A>G	NP_001304893.1:p.Lys82Arg
NM_001317965.2:c.83A>G	NP_001304894.1:p.Lys28Arg
NM_016460.4:c.213+728A>G	NP_057544.2:n.213+728A>G