Canonical Allele Identifier: CA16617173
Gene: STIL HGNC NCBI

Linked Data

ClinVar Variation Id: 423587
ClinVar RCV Id: RCV000484930
dbSNP Id: rs1064796510
gnomAD v4: 1-47260541-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47260541T>C , CM000663.2:g.47260541T>C GRCh38
NC_000001.10:g.47726213T>C , CM000663.1:g.47726213T>C GRCh37
NC_000001.9:g.47498800T>C NCBI36
NG_012126.1:g.58607A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000337817.10:c.2689-2A>G ENSP00000337367.6:n.2689-2A>G
ENST00000447475.7:c.2635-2A>G ENSP00000411664.3:n.2635-2A>G
ENST00000682940.1:n.1380-2A>G
ENST00000682977.1:c.2689-2A>G ENSP00000506981.1:n.2689-2A>G
ENST00000683977.1:c.2125+2362A>G
ENST00000684618.1:n.1602-2A>G
ENST00000371877.8:c.2830-2A>G MANE Select ENSP00000360944.3:n.2830-2A>G
ENST00000337817.9:c.2689-2A>G ENSP00000337367.6:n.2689-2A>G
ENST00000360380.7:c.2827-2A>G ENSP00000353544.3:n.2827-2A>G
ENST00000371877.7:c.2830-2A>G ENSP00000360944.3:n.2830-2A>G
ENST00000396221.6:c.2776-2A>G ENSP00000379523.2:n.2776-2A>G
ENST00000418131.1:n.3308-2A>G
ENST00000447475.6:c.2635-2A>G ENSP00000411664.2:n.2635-2A>G
NM_001048166.1:c.2830-2A>G MANE Select NP_001041631.1:n.2830-2A>G
NM_001282936.1:c.2827-2A>G NP_001269865.1:n.2827-2A>G
NM_001282937.1:c.2776-2A>G NP_001269866.1:n.2776-2A>G
NM_001282938.1:c.2689-2A>G NP_001269867.1:n.2689-2A>G
NM_001282939.1:c.2635-2A>G NP_001269868.1:n.2635-2A>G
NM_003035.2:c.2827-2A>G NP_003026.2:n.2827-2A>G
XM_006710834.2:c.2830-2A>G XP_006710897.1:n.2830-2A>G
XM_011541991.1:c.2830-2A>G XP_011540293.1:n.2830-2A>G
XM_011541992.1:c.2830-2A>G XP_011540294.1:n.2830-2A>G
XM_011541993.1:c.2827-2A>G XP_011540295.1:n.2827-2A>G
XM_011541994.1:c.2776-2A>G XP_011540296.1:n.2776-2A>G
XM_011541995.1:c.2776-2A>G XP_011540297.1:n.2776-2A>G
XM_011541996.1:c.2689-2A>G XP_011540298.1:n.2689-2A>G
XM_011541997.1:c.2689-2A>G XP_011540299.1:n.2689-2A>G
XM_011541998.1:c.2635-2A>G XP_011540300.1:n.2635-2A>G
XM_011541999.1:c.2134-2A>G XP_011540301.1:n.2134-2A>G
XM_011542000.1:c.2134-2A>G XP_011540302.1:n.2134-2A>G
XM_011542001.1:c.2829+2362A>G XP_011540303.1:n.2829+2362A>G
XM_006710834.3:c.2830-2A>G XP_006710897.1:n.2830-2A>G
XM_011541991.2:c.2830-2A>G XP_011540293.1:n.2830-2A>G
XM_011541992.2:c.2830-2A>G XP_011540294.1:n.2830-2A>G
XM_011541994.2:c.2776-2A>G XP_011540296.1:n.2776-2A>G
XM_011541996.2:c.2689-2A>G XP_011540298.1:n.2689-2A>G
XM_011541998.2:c.2635-2A>G XP_011540300.1:n.2635-2A>G
XM_011542001.2:c.2829+2362A>G XP_011540303.1:n.2829+2362A>G
XM_017002123.1:c.2686-2A>G XP_016857612.1:n.2686-2A>G
XM_017002124.1:c.2119-2A>G XP_016857613.1:n.2119-2A>G
XM_017002125.1:c.2826+2362A>G XP_016857614.1:n.2826+2362A>G
XM_017002126.1:c.2775+2362A>G XP_016857615.1:n.2775+2362A>G
XR_001737370.1:n.3104-2A>G
NM_001377417.1:c.2689-2A>G NP_001364346.1:n.2689-2A>G