Canonical Allele Identifier: CA393935323
Gene: LINS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100573694T>A , CM000677.2:g.100573694T>A GRCh38
NC_000015.9:g.101113899T>A , CM000677.1:g.101113899T>A GRCh37
NC_000015.8:g.98931422T>A NCBI36
NG_034076.1:g.33547A>T
NG_034076.2:g.34339A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314742.13:c.1179A>T MANE Select ENSP00000318423.8:p.Leu393Phe
ENST00000314742.12:c.1179A>T ENSP00000318423.8:p.Leu393Phe
ENST00000559149.5:n.1336A>T
ENST00000560133.5:c.822A>T ENSP00000454929.1:p.Leu274Phe
ENST00000560783.1:c.148A>T
ENST00000561308.5:c.1179A>T ENSP00000454200.1:p.Leu393Phe
NM_001040616.2:c.1179A>T NP_001035706.1:p.Leu393Phe
XM_005254941.1:c.1179A>T XP_005254998.1:p.Leu393Phe
XM_005254943.1:c.1179A>T XP_005255000.1:p.Leu393Phe
XR_243210.2:n.1282A>T
XR_429464.2:n.1282A>T
XR_931862.1:n.1282A>T
XR_931863.1:n.1282A>T
XR_931864.1:n.1282A>T
NM_001352507.1:c.432A>T NP_001339436.1:p.Leu144Phe
NM_001352508.1:c.1134A>T NP_001339437.1:p.Leu378Phe
NR_148017.1:n.1402A>T
NR_148018.1:n.1402A>T
NR_148019.1:n.1406A>T
XM_005254941.2:c.1179A>T XP_005254998.1:p.Leu393Phe
XM_005254943.2:c.1179A>T XP_005255000.1:p.Leu393Phe
XM_017022399.2:c.432A>T XP_016877888.1:p.Leu144Phe
XM_017022400.2:c.432A>T XP_016877889.1:p.Leu144Phe
XM_024449979.1:c.1179A>T XP_024305747.1:p.Leu393Phe
XM_024449980.1:c.1179A>T XP_024305748.1:p.Leu393Phe
XR_001751346.2:n.2194A>T
XR_001751347.2:n.2194A>T
XR_001751348.2:n.2194A>T
XR_002957655.1:n.2194A>T
XR_931862.3:n.2194A>T
NM_001040616.3:c.1179A>T MANE Select NP_001035706.2:p.Leu393Phe
NM_001352507.2:c.432A>T NP_001339436.1:p.Leu144Phe
NM_001352508.2:c.1134A>T NP_001339437.1:p.Leu378Phe
NR_148017.2:n.1346A>T
NR_148018.2:n.1346A>T
NR_148019.2:n.1350A>T