Canonical Allele Identifier: CA841926

Gene: STIL

Linked Data

• ClinVar Variation Id: 436885
• ClinVar RCV Id: RCV000502613 ; RCV001101741
• dbSNP Id: rs142210835
• ExAC: 1:47716921 T / C
• gnomAD v2: 1-47716921-T-C
• gnomAD v3: 1-47251249-T-C
• gnomAD v4: 1-47251249-T-C
• MyVariant Identifiers: chr1:g.47716921T>C (hg19) ; chr1:g.47251249T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47251249T>C , CM000663.2:g.47251249T>C	GRCh38
NC_000001.10:g.47716921T>C , CM000663.1:g.47716921T>C	GRCh37
NC_000001.9:g.47489508T>C	NCBI36
NG_012126.1:g.67899A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337817.10:c.3613A>G	ENSP00000337367.6:p.Ile1205Val
ENST00000447475.7:c.3559A>G	ENSP00000411664.3:p.Ile1187Val
ENST00000682940.1:n.2304A>G
ENST00000682977.1:c.3613A>G	ENSP00000506981.1:p.Ile1205Val
ENST00000683977.1:c.2799A>G
ENST00000684618.1:n.2526A>G
ENST00000371877.8:c.3754A>G MANE Select	ENSP00000360944.3:p.Ile1252Val
ENST00000337817.9:c.3613A>G	ENSP00000337367.6:p.Ile1205Val
ENST00000360380.7:c.3751A>G	ENSP00000353544.3:p.Ile1251Val
ENST00000371877.7:c.3754A>G	ENSP00000360944.3:p.Ile1252Val
ENST00000396221.6:c.3700A>G	ENSP00000379523.2:p.Ile1234Val
NM_001048166.1:c.3754A>G MANE Select	NP_001041631.1:p.Ile1252Val
NM_001282936.1:c.3751A>G	NP_001269865.1:p.Ile1251Val
NM_001282937.1:c.3700A>G	NP_001269866.1:p.Ile1234Val
NM_001282938.1:c.3613A>G	NP_001269867.1:p.Ile1205Val
NM_001282939.1:c.3559A>G	NP_001269868.1:p.Ile1187Val
NM_003035.2:c.3751A>G	NP_003026.2:p.Ile1251Val
XM_006710834.2:c.3754A>G	XP_006710897.1:p.Ile1252Val
XM_011541991.1:c.3754A>G	XP_011540293.1:p.Ile1252Val
XM_011541992.1:c.3754A>G	XP_011540294.1:p.Ile1252Val
XM_011541993.1:c.3751A>G	XP_011540295.1:p.Ile1251Val
XM_011541994.1:c.3700A>G	XP_011540296.1:p.Ile1234Val
XM_011541995.1:c.3700A>G	XP_011540297.1:p.Ile1234Val
XM_011541996.1:c.3613A>G	XP_011540298.1:p.Ile1205Val
XM_011541997.1:c.3613A>G	XP_011540299.1:p.Ile1205Val
XM_011541998.1:c.3559A>G	XP_011540300.1:p.Ile1187Val
XM_011541999.1:c.3058A>G	XP_011540301.1:p.Ile1020Val
XM_011542000.1:c.3058A>G	XP_011540302.1:p.Ile1020Val
XM_006710834.3:c.3754A>G	XP_006710897.1:p.Ile1252Val
XM_011541991.2:c.3754A>G	XP_011540293.1:p.Ile1252Val
XM_011541992.2:c.3754A>G	XP_011540294.1:p.Ile1252Val
XM_011541994.2:c.3700A>G	XP_011540296.1:p.Ile1234Val
XM_011541996.2:c.3613A>G	XP_011540298.1:p.Ile1205Val
XM_011541998.2:c.3559A>G	XP_011540300.1:p.Ile1187Val
XM_011542001.2:c.*611A>G	XP_011540303.1:n.*611A>G
XM_017002123.1:c.3610A>G	XP_016857612.1:p.Ile1204Val
XM_017002124.1:c.3043A>G	XP_016857613.1:p.Ile1015Val
XM_017002125.1:c.*611A>G	XP_016857614.1:n.*611A>G
XM_017002126.1:c.*611A>G	XP_016857615.1:n.*611A>G
XR_001737370.1:n.4028A>G
NM_001377417.1:c.3613A>G	NP_001364346.1:p.Ile1205Val