Canonical Allele Identifier: CA393935221
Gene: LINS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100573649A>C , CM000677.2:g.100573649A>C GRCh38
NC_000015.9:g.101113854A>C , CM000677.1:g.101113854A>C GRCh37
NC_000015.8:g.98931377A>C NCBI36
NG_034076.1:g.33592T>G
NG_034076.2:g.34384T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000314742.13:c.1222+2T>G MANE Select ENSP00000318423.8:n.1222+2T>G
ENST00000314742.12:c.1222+2T>G ENSP00000318423.8:n.1222+2T>G
ENST00000559149.5:n.1379+2T>G
ENST00000560133.5:c.867T>G ENSP00000454929.1:p.Gly289=
ENST00000560783.1:c.191+2T>G
ENST00000561308.5:c.1224T>G ENSP00000454200.1:p.Gly408=
NM_001040616.2:c.1222+2T>G NP_001035706.1:n.1222+2T>G
XM_005254941.1:c.1222+2T>G XP_005254998.1:n.1222+2T>G
XM_005254943.1:c.1222+2T>G XP_005255000.1:n.1222+2T>G
XR_243210.2:n.1325+2T>G
XR_429464.2:n.1325+2T>G
XR_931862.1:n.1325+2T>G
XR_931863.1:n.1325+2T>G
XR_931864.1:n.1325+2T>G
NM_001352507.1:c.475+2T>G NP_001339436.1:n.475+2T>G
NM_001352508.1:c.1177+2T>G NP_001339437.1:n.1177+2T>G
NR_148017.1:n.1445+2T>G
NR_148018.1:n.1445+2T>G
NR_148019.1:n.1449+2T>G
XM_005254941.2:c.1222+2T>G XP_005254998.1:n.1222+2T>G
XM_005254943.2:c.1222+2T>G XP_005255000.1:n.1222+2T>G
XM_017022399.2:c.475+2T>G XP_016877888.1:n.475+2T>G
XM_017022400.2:c.475+2T>G XP_016877889.1:n.475+2T>G
XM_024449979.1:c.1222+2T>G XP_024305747.1:n.1222+2T>G
XM_024449980.1:c.1222+2T>G XP_024305748.1:n.1222+2T>G
XR_001751346.2:n.2237+2T>G
XR_001751347.2:n.2237+2T>G
XR_001751348.2:n.2237+2T>G
XR_002957655.1:n.2237+2T>G
XR_931862.3:n.2237+2T>G
NM_001040616.3:c.1222+2T>G MANE Select NP_001035706.2:n.1222+2T>G
NM_001352507.2:c.475+2T>G NP_001339436.1:n.475+2T>G
NM_001352508.2:c.1177+2T>G NP_001339437.1:n.1177+2T>G
NR_148017.2:n.1389+2T>G
NR_148018.2:n.1389+2T>G
NR_148019.2:n.1393+2T>G