Canonical Allele Identifier: CA275559438

Gene: LINS1

Linked Data

• dbSNP Id: rs371774549
• gnomAD v2: 15-101113956-G-A
• gnomAD v4: 15-100573751-G-A
• MyVariant Identifiers: chr15:g.101113956G>A (hg19) ; chr15:g.100573751G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573751G>A , CM000677.2:g.100573751G>A	GRCh38
NC_000015.9:g.101113956G>A , CM000677.1:g.101113956G>A	GRCh37
NC_000015.8:g.98931479G>A	NCBI36
NG_034076.1:g.33490C>T
NG_034076.2:g.34282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1122C>T MANE Select	ENSP00000318423.8:p.Ile374=
ENST00000314742.12:c.1122C>T	ENSP00000318423.8:p.Ile374=
ENST00000559149.5:n.1279C>T
ENST00000560133.5:c.765C>T	ENSP00000454929.1:p.Ile255=
ENST00000560783.1:c.91C>T
ENST00000561308.5:c.1122C>T	ENSP00000454200.1:p.Ile374=
NM_001040616.2:c.1122C>T	NP_001035706.1:p.Ile374=
XM_005254941.1:c.1122C>T	XP_005254998.1:p.Ile374=
XM_005254943.1:c.1122C>T	XP_005255000.1:p.Ile374=
XR_243210.2:n.1225C>T
XR_429464.2:n.1225C>T
XR_931862.1:n.1225C>T
XR_931863.1:n.1225C>T
XR_931864.1:n.1225C>T
NM_001352507.1:c.375C>T	NP_001339436.1:p.Ile125=
NM_001352508.1:c.1077C>T	NP_001339437.1:p.Ile359=
NR_148017.1:n.1345C>T
NR_148018.1:n.1345C>T
NR_148019.1:n.1349C>T
XM_005254941.2:c.1122C>T	XP_005254998.1:p.Ile374=
XM_005254943.2:c.1122C>T	XP_005255000.1:p.Ile374=
XM_017022399.2:c.375C>T	XP_016877888.1:p.Ile125=
XM_017022400.2:c.375C>T	XP_016877889.1:p.Ile125=
XM_024449979.1:c.1122C>T	XP_024305747.1:p.Ile374=
XM_024449980.1:c.1122C>T	XP_024305748.1:p.Ile374=
XR_001751346.2:n.2137C>T
XR_001751347.2:n.2137C>T
XR_001751348.2:n.2137C>T
XR_002957655.1:n.2137C>T
XR_931862.3:n.2137C>T
NM_001040616.3:c.1122C>T MANE Select	NP_001035706.2:p.Ile374=
NM_001352507.2:c.375C>T	NP_001339436.1:p.Ile125=
NM_001352508.2:c.1077C>T	NP_001339437.1:p.Ile359=
NR_148017.2:n.1289C>T
NR_148018.2:n.1289C>T
NR_148019.2:n.1293C>T