Canonical Allele Identifier: CA393935456

Gene: LINS1

Linked Data

• dbSNP Id: rs1482726251
• gnomAD v2: 15-101113964-C-T
• gnomAD v3: 15-100573759-C-T
• gnomAD v4: 15-100573759-C-T
• MyVariant Identifiers: chr15:g.101113964C>T (hg19) ; chr15:g.100573759C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573759C>T , CM000677.2:g.100573759C>T	GRCh38
NC_000015.9:g.101113964C>T , CM000677.1:g.101113964C>T	GRCh37
NC_000015.8:g.98931487C>T	NCBI36
NG_034076.1:g.33482G>A
NG_034076.2:g.34274G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1114G>A MANE Select	ENSP00000318423.8:p.Glu372Lys
ENST00000314742.12:c.1114G>A	ENSP00000318423.8:p.Glu372Lys
ENST00000559149.5:n.1271G>A
ENST00000560133.5:c.757G>A	ENSP00000454929.1:p.Glu253Lys
ENST00000560783.1:c.83G>A
ENST00000561308.5:c.1114G>A	ENSP00000454200.1:p.Glu372Lys
NM_001040616.2:c.1114G>A	NP_001035706.1:p.Glu372Lys
XM_005254941.1:c.1114G>A	XP_005254998.1:p.Glu372Lys
XM_005254943.1:c.1114G>A	XP_005255000.1:p.Glu372Lys
XR_243210.2:n.1217G>A
XR_429464.2:n.1217G>A
XR_931862.1:n.1217G>A
XR_931863.1:n.1217G>A
XR_931864.1:n.1217G>A
NM_001352507.1:c.367G>A	NP_001339436.1:p.Glu123Lys
NM_001352508.1:c.1069G>A	NP_001339437.1:p.Glu357Lys
NR_148017.1:n.1337G>A
NR_148018.1:n.1337G>A
NR_148019.1:n.1341G>A
XM_005254941.2:c.1114G>A	XP_005254998.1:p.Glu372Lys
XM_005254943.2:c.1114G>A	XP_005255000.1:p.Glu372Lys
XM_017022399.2:c.367G>A	XP_016877888.1:p.Glu123Lys
XM_017022400.2:c.367G>A	XP_016877889.1:p.Glu123Lys
XM_024449979.1:c.1114G>A	XP_024305747.1:p.Glu372Lys
XM_024449980.1:c.1114G>A	XP_024305748.1:p.Glu372Lys
XR_001751346.2:n.2129G>A
XR_001751347.2:n.2129G>A
XR_001751348.2:n.2129G>A
XR_002957655.1:n.2129G>A
XR_931862.3:n.2129G>A
NM_001040616.3:c.1114G>A MANE Select	NP_001035706.2:p.Glu372Lys
NM_001352507.2:c.367G>A	NP_001339436.1:p.Glu123Lys
NM_001352508.2:c.1069G>A	NP_001339437.1:p.Glu357Lys
NR_148017.2:n.1281G>A
NR_148018.2:n.1281G>A
NR_148019.2:n.1285G>A