Canonical Allele Identifier: CA393935833
Community Standard Title: NM_001040616.3(LINS1):c.937G>T (p.Glu313Ter)
Gene: LINS1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_001040616.3:c.937G>T MANE Select NP_001035706.2:p.Glu313Ter
ENST00000314742.13:c.937G>T MANE Select ENSP00000318423.8:p.Glu313Ter
NM_001040616.2:c.937G>T NP_001035706.1:p.Glu313Ter
NM_001352507.1:c.190G>T NP_001339436.1:p.Glu64Ter
NM_001352507.2:c.190G>T NP_001339436.1:p.Glu64Ter
NM_001352508.1:c.892G>T NP_001339437.1:p.Glu298Ter
NM_001352508.2:c.892G>T NP_001339437.1:p.Glu298Ter
NR_148017.1:n.1160G>T
NR_148017.2:n.1104G>T
NR_148018.1:n.1160G>T
NR_148018.2:n.1104G>T
NR_148019.1:n.1164G>T
NR_148019.2:n.1108G>T
ENST00000314742.12:c.937G>T ENSP00000318423.8:p.Glu313Ter
ENST00000559149.5:n.1094G>T
ENST00000560133.5:c.580G>T ENSP00000454929.1:p.Glu194Ter
ENST00000561308.5:c.937G>T ENSP00000454200.1:p.Glu313Ter
XM_005254941.1:c.937G>T XP_005254998.1:p.Glu313Ter
XM_005254941.2:c.937G>T XP_005254998.1:p.Glu313Ter
XM_005254943.1:c.937G>T XP_005255000.1:p.Glu313Ter
XM_005254943.2:c.937G>T XP_005255000.1:p.Glu313Ter
XM_017022399.2:c.190G>T XP_016877888.1:p.Glu64Ter
XM_017022400.2:c.190G>T XP_016877889.1:p.Glu64Ter
XM_024449979.1:c.937G>T XP_024305747.1:p.Glu313Ter
XM_024449980.1:c.937G>T XP_024305748.1:p.Glu313Ter
XR_001751346.2:n.1952G>T
XR_001751347.2:n.1952G>T
XR_001751348.2:n.1952G>T
XR_002957655.1:n.1952G>T
XR_243210.2:n.1040G>T
XR_429464.2:n.1040G>T
XR_931862.1:n.1040G>T
XR_931862.3:n.1952G>T
XR_931863.1:n.1040G>T
XR_931864.1:n.1040G>T