Canonical Allele Identifier: CA275559404

Gene: LINS1

Linked Data

• dbSNP Id: rs201228890
• gnomAD v3: 15-100573711-C-G
• gnomAD v4: 15-100573711-C-G
• MyVariant Identifiers: chr15:g.101113916C>G (hg19) ; chr15:g.100573711C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100573711C>G , CM000677.2:g.100573711C>G	GRCh38
NC_000015.9:g.101113916C>G , CM000677.1:g.101113916C>G	GRCh37
NC_000015.8:g.98931439C>G	NCBI36
NG_034076.1:g.33530G>C
NG_034076.2:g.34322G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000314742.13:c.1162G>C MANE Select	ENSP00000318423.8:p.Val388Leu
ENST00000314742.12:c.1162G>C	ENSP00000318423.8:p.Val388Leu
ENST00000559149.5:n.1319G>C
ENST00000560133.5:c.805G>C	ENSP00000454929.1:p.Val269Leu
ENST00000560783.1:c.131G>C
ENST00000561308.5:c.1162G>C	ENSP00000454200.1:p.Val388Leu
NM_001040616.2:c.1162G>C	NP_001035706.1:p.Val388Leu
XM_005254941.1:c.1162G>C	XP_005254998.1:p.Val388Leu
XM_005254943.1:c.1162G>C	XP_005255000.1:p.Val388Leu
XR_243210.2:n.1265G>C
XR_429464.2:n.1265G>C
XR_931862.1:n.1265G>C
XR_931863.1:n.1265G>C
XR_931864.1:n.1265G>C
NM_001352507.1:c.415G>C	NP_001339436.1:p.Val139Leu
NM_001352508.1:c.1117G>C	NP_001339437.1:p.Val373Leu
NR_148017.1:n.1385G>C
NR_148018.1:n.1385G>C
NR_148019.1:n.1389G>C
XM_005254941.2:c.1162G>C	XP_005254998.1:p.Val388Leu
XM_005254943.2:c.1162G>C	XP_005255000.1:p.Val388Leu
XM_017022399.2:c.415G>C	XP_016877888.1:p.Val139Leu
XM_017022400.2:c.415G>C	XP_016877889.1:p.Val139Leu
XM_024449979.1:c.1162G>C	XP_024305747.1:p.Val388Leu
XM_024449980.1:c.1162G>C	XP_024305748.1:p.Val388Leu
XR_001751346.2:n.2177G>C
XR_001751347.2:n.2177G>C
XR_001751348.2:n.2177G>C
XR_002957655.1:n.2177G>C
XR_931862.3:n.2177G>C
NM_001040616.3:c.1162G>C MANE Select	NP_001035706.2:p.Val388Leu
NM_001352507.2:c.415G>C	NP_001339436.1:p.Val139Leu
NM_001352508.2:c.1117G>C	NP_001339437.1:p.Val373Leu
NR_148017.2:n.1329G>C
NR_148018.2:n.1329G>C
NR_148019.2:n.1333G>C