Canonical Allele Identifier: CA7759531

Gene: LINS1

Linked Data

• ClinVar Variation Id: 589349
• ClinVar RCV Id: RCV002462099
• dbSNP Id: rs776962968
• ExAC: 15:101113957 A / G
• gnomAD v2: 15-101113957-A-G
• gnomAD v3: 15-100573752-A-G
• gnomAD v4: 15-100573752-A-G
• MyVariant Identifiers: chr15:g.101113957A>G (hg19) ; chr15:g.100573752A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573752A>G , CM000677.2:g.100573752A>G	GRCh38
NC_000015.9:g.101113957A>G , CM000677.1:g.101113957A>G	GRCh37
NC_000015.8:g.98931480A>G	NCBI36
NG_034076.1:g.33489T>C
NG_034076.2:g.34281T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1121T>C MANE Select	ENSP00000318423.8:p.Ile374Thr
ENST00000314742.12:c.1121T>C	ENSP00000318423.8:p.Ile374Thr
ENST00000559149.5:n.1278T>C
ENST00000560133.5:c.764T>C	ENSP00000454929.1:p.Ile255Thr
ENST00000560783.1:c.90T>C
ENST00000561308.5:c.1121T>C	ENSP00000454200.1:p.Ile374Thr
NM_001040616.2:c.1121T>C	NP_001035706.1:p.Ile374Thr
XM_005254941.1:c.1121T>C	XP_005254998.1:p.Ile374Thr
XM_005254943.1:c.1121T>C	XP_005255000.1:p.Ile374Thr
XR_243210.2:n.1224T>C
XR_429464.2:n.1224T>C
XR_931862.1:n.1224T>C
XR_931863.1:n.1224T>C
XR_931864.1:n.1224T>C
NM_001352507.1:c.374T>C	NP_001339436.1:p.Ile125Thr
NM_001352508.1:c.1076T>C	NP_001339437.1:p.Ile359Thr
NR_148017.1:n.1344T>C
NR_148018.1:n.1344T>C
NR_148019.1:n.1348T>C
XM_005254941.2:c.1121T>C	XP_005254998.1:p.Ile374Thr
XM_005254943.2:c.1121T>C	XP_005255000.1:p.Ile374Thr
XM_017022399.2:c.374T>C	XP_016877888.1:p.Ile125Thr
XM_017022400.2:c.374T>C	XP_016877889.1:p.Ile125Thr
XM_024449979.1:c.1121T>C	XP_024305747.1:p.Ile374Thr
XM_024449980.1:c.1121T>C	XP_024305748.1:p.Ile374Thr
XR_001751346.2:n.2136T>C
XR_001751347.2:n.2136T>C
XR_001751348.2:n.2136T>C
XR_002957655.1:n.2136T>C
XR_931862.3:n.2136T>C
NM_001040616.3:c.1121T>C MANE Select	NP_001035706.2:p.Ile374Thr
NM_001352507.2:c.374T>C	NP_001339436.1:p.Ile125Thr
NM_001352508.2:c.1076T>C	NP_001339437.1:p.Ile359Thr
NR_148017.2:n.1288T>C
NR_148018.2:n.1288T>C
NR_148019.2:n.1292T>C