Canonical Allele Identifier: CA393935128
Gene: LINS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.100573609A>G , CM000677.2:g.100573609A>G GRCh38
NC_000015.9:g.101113814A>G , CM000677.1:g.101113814A>G GRCh37
NC_000015.8:g.98931337A>G NCBI36
NG_034076.1:g.33632T>C
NG_034076.2:g.34424T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314742.13:c.1222+42T>C MANE Select ENSP00000318423.8:n.1222+42T>C
ENST00000314742.12:c.1222+42T>C ENSP00000318423.8:n.1222+42T>C
ENST00000559149.5:n.1379+42T>C
ENST00000560133.5:c.907T>C ENSP00000454929.1:p.Tyr303His
ENST00000560783.1:c.191+42T>C
ENST00000561308.5:c.1264T>C ENSP00000454200.1:p.Tyr422His
NM_001040616.2:c.1222+42T>C NP_001035706.1:n.1222+42T>C
XM_005254941.1:c.1222+42T>C XP_005254998.1:n.1222+42T>C
XM_005254943.1:c.1222+42T>C XP_005255000.1:n.1222+42T>C
XR_243210.2:n.1325+42T>C
XR_429464.2:n.1325+42T>C
XR_931862.1:n.1325+42T>C
XR_931863.1:n.1325+42T>C
XR_931864.1:n.1325+42T>C
NM_001352507.1:c.475+42T>C NP_001339436.1:n.475+42T>C
NM_001352508.1:c.1177+42T>C NP_001339437.1:n.1177+42T>C
NR_148017.1:n.1445+42T>C
NR_148018.1:n.1445+42T>C
NR_148019.1:n.1449+42T>C
XM_005254941.2:c.1222+42T>C XP_005254998.1:n.1222+42T>C
XM_005254943.2:c.1222+42T>C XP_005255000.1:n.1222+42T>C
XM_017022399.2:c.475+42T>C XP_016877888.1:n.475+42T>C
XM_017022400.2:c.475+42T>C XP_016877889.1:n.475+42T>C
XM_024449979.1:c.1222+42T>C XP_024305747.1:n.1222+42T>C
XM_024449980.1:c.1222+42T>C XP_024305748.1:n.1222+42T>C
XR_001751346.2:n.2237+42T>C
XR_001751347.2:n.2237+42T>C
XR_001751348.2:n.2237+42T>C
XR_002957655.1:n.2237+42T>C
XR_931862.3:n.2237+42T>C
NM_001040616.3:c.1222+42T>C MANE Select NP_001035706.2:n.1222+42T>C
NM_001352507.2:c.475+42T>C NP_001339436.1:n.475+42T>C
NM_001352508.2:c.1177+42T>C NP_001339437.1:n.1177+42T>C
NR_148017.2:n.1389+42T>C
NR_148018.2:n.1389+42T>C
NR_148019.2:n.1393+42T>C