Canonical Allele Identifier: CA361607853

Gene: LARS1

Linked Data

• ClinVar Variation Id: 3117911
• ClinVar RCV Id: RCV004410222
• MyVariant Identifiers: chr5:g.145493775G>A (hg19) ; chr5:g.146114212G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146114212G>A , CM000667.2:g.146114212G>A	GRCh38
NC_000005.9:g.145493775G>A , CM000667.1:g.145493775G>A	GRCh37
NC_000005.8:g.145473968G>A	NCBI36
NG_042294.1:g.73520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394434.7:c.3425C>T MANE Select	ENSP00000377954.2:p.Ser1142Phe
ENST00000504323.6:n.3855C>T
ENST00000506231.6:n.6307C>T
ENST00000674158.1:c.3044C>T	ENSP00000501474.1:p.Ser1015Phe
ENST00000674170.1:c.*1863C>T	ENSP00000501381.1:n.*1863C>T
ENST00000674174.1:c.3263C>T	ENSP00000501434.1:p.Ser1088Phe
ENST00000674181.1:c.1672C>T
ENST00000674191.1:c.2969C>T	ENSP00000501478.1:p.Ser990Phe
ENST00000674218.1:n.6212C>T
ENST00000674270.1:c.3287C>T	ENSP00000501365.1:p.Ser1096Phe
ENST00000674277.1:c.3260C>T	ENSP00000501510.1:p.Ser1087Phe
ENST00000674290.1:c.3389C>T	ENSP00000501435.1:p.Ser1130Phe
ENST00000674309.1:c.*781C>T	ENSP00000501400.1:n.*781C>T
ENST00000674383.1:n.6078C>T
ENST00000674398.1:c.3422C>T	ENSP00000501476.1:p.Ser1141Phe
ENST00000674447.1:c.3344C>T	ENSP00000501376.1:p.Ser1115Phe
ENST00000674467.1:c.*1347C>T	ENSP00000501351.1:n.*1347C>T
ENST00000674471.1:n.3693C>T
ENST00000674479.1:n.4462C>T
ENST00000274562.13:c.1352C>T	ENSP00000274562.10:p.Ser451Phe
ENST00000394434.6:c.3425C>T	ENSP00000377954.2:p.Ser1142Phe
ENST00000506231.5:n.3406C>T
ENST00000510191.5:c.3263C>T	ENSP00000426005.1:p.Ser1088Phe
NM_020117.9:c.3425C>T	NP_064502.9:p.Ser1142Phe
XM_011537655.1:c.3287C>T	XP_011535957.1:p.Ser1096Phe
XM_011537656.1:c.3263C>T	XP_011535958.1:p.Ser1088Phe
XM_011537657.1:c.3212C>T	XP_011535959.1:p.Ser1071Phe
NM_001317964.1:c.3287C>T	NP_001304893.1:p.Ser1096Phe
NM_001317965.1:c.3263C>T	NP_001304894.1:p.Ser1088Phe
NM_016460.3:c.3344C>T	NP_057544.2:p.Ser1115Phe
NM_020117.10:c.3425C>T	NP_064502.9:p.Ser1142Phe
XM_011537656.3:c.3263C>T	XP_011535958.1:p.Ser1088Phe
NM_020117.11:c.3425C>T MANE Select	NP_064502.9:p.Ser1142Phe
NM_001317964.2:c.3287C>T	NP_001304893.1:p.Ser1096Phe
NM_001317965.2:c.3263C>T	NP_001304894.1:p.Ser1088Phe
NM_016460.4:c.3344C>T	NP_057544.2:p.Ser1115Phe