Canonical Allele Identifier: CA173627
Community Standard Title: NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
Gene: STIL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.47251625T>C , CM000663.2:g.47251625T>C GRCh38
NC_000001.10:g.47717297T>C , CM000663.1:g.47717297T>C GRCh37
NC_000001.9:g.47489884T>C NCBI36
NG_012126.1:g.67523A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001048166.1:c.3378A>G MANE Select NP_001041631.1:p.Arg1126=
ENST00000371877.8:c.3378A>G MANE Select ENSP00000360944.3:p.Arg1126=
NM_001282936.1:c.3375A>G NP_001269865.1:p.Arg1125=
NM_001282937.1:c.3324A>G NP_001269866.1:p.Arg1108=
NM_001282938.1:c.3237A>G NP_001269867.1:p.Arg1079=
NM_001282939.1:c.3183A>G NP_001269868.1:p.Arg1061=
NM_001377417.1:c.3237A>G NP_001364346.1:p.Arg1079=
NM_003035.2:c.3375A>G NP_003026.2:p.Arg1125=
ENST00000337817.10:c.3237A>G ENSP00000337367.6:p.Arg1079=
ENST00000337817.9:c.3237A>G ENSP00000337367.6:p.Arg1079=
ENST00000360380.7:c.3375A>G ENSP00000353544.3:p.Arg1125=
ENST00000371877.7:c.3378A>G ENSP00000360944.3:p.Arg1126=
ENST00000396221.6:c.3324A>G ENSP00000379523.2:p.Arg1108=
ENST00000447475.7:c.3183A>G ENSP00000411664.3:p.Arg1061=
ENST00000682940.1:n.1928A>G
ENST00000682977.1:c.3237A>G ENSP00000506981.1:p.Arg1079=
ENST00000683977.1:c.2423A>G
ENST00000684618.1:n.2150A>G
XM_006710834.2:c.3378A>G XP_006710897.1:p.Arg1126=
XM_006710834.3:c.3378A>G XP_006710897.1:p.Arg1126=
XM_011541991.1:c.3378A>G XP_011540293.1:p.Arg1126=
XM_011541991.2:c.3378A>G XP_011540293.1:p.Arg1126=
XM_011541992.1:c.3378A>G XP_011540294.1:p.Arg1126=
XM_011541992.2:c.3378A>G XP_011540294.1:p.Arg1126=
XM_011541993.1:c.3375A>G XP_011540295.1:p.Arg1125=
XM_011541994.1:c.3324A>G XP_011540296.1:p.Arg1108=
XM_011541994.2:c.3324A>G XP_011540296.1:p.Arg1108=
XM_011541995.1:c.3324A>G XP_011540297.1:p.Arg1108=
XM_011541996.1:c.3237A>G XP_011540298.1:p.Arg1079=
XM_011541996.2:c.3237A>G XP_011540298.1:p.Arg1079=
XM_011541997.1:c.3237A>G XP_011540299.1:p.Arg1079=
XM_011541998.1:c.3183A>G XP_011540300.1:p.Arg1061=
XM_011541998.2:c.3183A>G XP_011540300.1:p.Arg1061=
XM_011541999.1:c.2682A>G XP_011540301.1:p.Arg894=
XM_011542000.1:c.2682A>G XP_011540302.1:p.Arg894=
XM_011542001.2:c.*235A>G XP_011540303.1:n.*235A>G
XM_017002123.1:c.3234A>G XP_016857612.1:p.Arg1078=
XM_017002124.1:c.2667A>G XP_016857613.1:p.Arg889=
XM_017002125.1:c.*235A>G XP_016857614.1:n.*235A>G
XM_017002126.1:c.*235A>G XP_016857615.1:n.*235A>G
XR_001737370.1:n.3652A>G