Canonical Allele Identifier: CA16043985
Gene: LINS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 374936
ClinVar RCV Id: RCV000415720
dbSNP Id: rs1057519019

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100573936C>T , CM000677.2:g.100573936C>T GRCh38
NC_000015.9:g.101114141C>T , CM000677.1:g.101114141C>T GRCh37
NC_000015.8:g.98931664C>T NCBI36
NG_034076.1:g.33305G>A
NG_034076.2:g.34097G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000314742.13:c.937G>A MANE Select ENSP00000318423.8:p.Glu313Lys
ENST00000314742.12:c.937G>A ENSP00000318423.8:p.Glu313Lys
ENST00000559149.5:n.1094G>A
ENST00000560133.5:c.580G>A ENSP00000454929.1:p.Glu194Lys
ENST00000561308.5:c.937G>A ENSP00000454200.1:p.Glu313Lys
NM_001040616.2:c.937G>A NP_001035706.1:p.Glu313Lys
XM_005254941.1:c.937G>A XP_005254998.1:p.Glu313Lys
XM_005254943.1:c.937G>A XP_005255000.1:p.Glu313Lys
XR_243210.2:n.1040G>A
XR_429464.2:n.1040G>A
XR_931862.1:n.1040G>A
XR_931863.1:n.1040G>A
XR_931864.1:n.1040G>A
NM_001352507.1:c.190G>A NP_001339436.1:p.Glu64Lys
NM_001352508.1:c.892G>A NP_001339437.1:p.Glu298Lys
NR_148017.1:n.1160G>A
NR_148018.1:n.1160G>A
NR_148019.1:n.1164G>A
XM_005254941.2:c.937G>A XP_005254998.1:p.Glu313Lys
XM_005254943.2:c.937G>A XP_005255000.1:p.Glu313Lys
XM_017022399.2:c.190G>A XP_016877888.1:p.Glu64Lys
XM_017022400.2:c.190G>A XP_016877889.1:p.Glu64Lys
XM_024449979.1:c.937G>A XP_024305747.1:p.Glu313Lys
XM_024449980.1:c.937G>A XP_024305748.1:p.Glu313Lys
XR_001751346.2:n.1952G>A
XR_001751347.2:n.1952G>A
XR_001751348.2:n.1952G>A
XR_002957655.1:n.1952G>A
XR_931862.3:n.1952G>A
NM_001040616.3:c.937G>A MANE Select NP_001035706.2:p.Glu313Lys
NM_001352507.2:c.190G>A NP_001339436.1:p.Glu64Lys
NM_001352508.2:c.892G>A NP_001339437.1:p.Glu298Lys
NR_148017.2:n.1104G>A
NR_148018.2:n.1104G>A
NR_148019.2:n.1108G>A