Canonical Allele Identifier: CA841910

Gene: STIL

Linked Data

• ClinVar Variation Id: 502127
• ClinVar RCV Id: RCV000591400 ; RCV001263538
• dbSNP Id: rs199634446
• ExAC: 1:47716837 G / A
• gnomAD v2: 1-47716837-G-A
• gnomAD v3: 1-47251165-G-A
• gnomAD v4: 1-47251165-G-A
• MyVariant Identifiers: chr1:g.47716837G>A (hg19) ; chr1:g.47251165G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47251165G>A , CM000663.2:g.47251165G>A	GRCh38
NC_000001.10:g.47716837G>A , CM000663.1:g.47716837G>A	GRCh37
NC_000001.9:g.47489424G>A	NCBI36
NG_012126.1:g.67983C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337817.10:c.3697C>T	ENSP00000337367.6:p.Arg1233Cys
ENST00000447475.7:c.3643C>T	ENSP00000411664.3:p.Arg1215Cys
ENST00000682940.1:n.2388C>T
ENST00000682977.1:c.3697C>T	ENSP00000506981.1:p.Arg1233Cys
ENST00000683977.1:c.2883C>T
ENST00000684618.1:n.2610C>T
ENST00000371877.8:c.3838C>T MANE Select	ENSP00000360944.3:p.Arg1280Cys
ENST00000337817.9:c.3697C>T	ENSP00000337367.6:p.Arg1233Cys
ENST00000360380.7:c.3835C>T	ENSP00000353544.3:p.Arg1279Cys
ENST00000371877.7:c.3838C>T	ENSP00000360944.3:p.Arg1280Cys
ENST00000396221.6:c.3784C>T	ENSP00000379523.2:p.Arg1262Cys
NM_001048166.1:c.3838C>T MANE Select	NP_001041631.1:p.Arg1280Cys
NM_001282936.1:c.3835C>T	NP_001269865.1:p.Arg1279Cys
NM_001282937.1:c.3784C>T	NP_001269866.1:p.Arg1262Cys
NM_001282938.1:c.3697C>T	NP_001269867.1:p.Arg1233Cys
NM_001282939.1:c.3643C>T	NP_001269868.1:p.Arg1215Cys
NM_003035.2:c.3835C>T	NP_003026.2:p.Arg1279Cys
XM_006710834.2:c.3838C>T	XP_006710897.1:p.Arg1280Cys
XM_011541991.1:c.3838C>T	XP_011540293.1:p.Arg1280Cys
XM_011541992.1:c.3838C>T	XP_011540294.1:p.Arg1280Cys
XM_011541993.1:c.3835C>T	XP_011540295.1:p.Arg1279Cys
XM_011541994.1:c.3784C>T	XP_011540296.1:p.Arg1262Cys
XM_011541995.1:c.3784C>T	XP_011540297.1:p.Arg1262Cys
XM_011541996.1:c.3697C>T	XP_011540298.1:p.Arg1233Cys
XM_011541997.1:c.3697C>T	XP_011540299.1:p.Arg1233Cys
XM_011541998.1:c.3643C>T	XP_011540300.1:p.Arg1215Cys
XM_011541999.1:c.3142C>T	XP_011540301.1:p.Arg1048Cys
XM_011542000.1:c.3142C>T	XP_011540302.1:p.Arg1048Cys
XM_006710834.3:c.3838C>T	XP_006710897.1:p.Arg1280Cys
XM_011541991.2:c.3838C>T	XP_011540293.1:p.Arg1280Cys
XM_011541992.2:c.3838C>T	XP_011540294.1:p.Arg1280Cys
XM_011541994.2:c.3784C>T	XP_011540296.1:p.Arg1262Cys
XM_011541996.2:c.3697C>T	XP_011540298.1:p.Arg1233Cys
XM_011541998.2:c.3643C>T	XP_011540300.1:p.Arg1215Cys
XM_011542001.2:c.*695C>T	XP_011540303.1:n.*695C>T
XM_017002123.1:c.3694C>T	XP_016857612.1:p.Arg1232Cys
XM_017002124.1:c.3127C>T	XP_016857613.1:p.Arg1043Cys
XR_001737370.1:n.4112C>T
NM_001377417.1:c.3697C>T	NP_001364346.1:p.Arg1233Cys