Canonical Allele Identifier: CA340248348

Gene: STIL

Linked Data

• MyVariant Identifiers: chr1:g.47746788C>A (hg19) ; chr1:g.47281116C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47281116C>A , CM000663.2:g.47281116C>A	GRCh38
NC_000001.10:g.47746788C>A , CM000663.1:g.47746788C>A	GRCh37
NC_000001.9:g.47519375C>A	NCBI36
NG_012126.1:g.38032G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337817.10:c.1201G>T	ENSP00000337367.6:p.Val401Leu
ENST00000436811.2:c.1342G>T	ENSP00000409087.2:p.Val448Leu
ENST00000447475.7:c.1201G>T	ENSP00000411664.3:p.Val401Leu
ENST00000682940.1:n.477G>T
ENST00000682977.1:c.1201G>T	ENSP00000506981.1:p.Val401Leu
ENST00000683977.1:c.641G>T
ENST00000684618.1:n.117G>T
ENST00000371877.8:c.1342G>T MANE Select	ENSP00000360944.3:p.Val448Leu
ENST00000337817.9:c.1201G>T	ENSP00000337367.6:p.Val401Leu
ENST00000360380.7:c.1342G>T	ENSP00000353544.3:p.Val448Leu
ENST00000371877.7:c.1342G>T	ENSP00000360944.3:p.Val448Leu
ENST00000396221.6:c.1342G>T	ENSP00000379523.2:p.Val448Leu
ENST00000418131.1:n.1823G>T
ENST00000447475.6:c.1201G>T	ENSP00000411664.2:p.Val401Leu
NM_001048166.1:c.1342G>T MANE Select	NP_001041631.1:p.Val448Leu
NM_001282936.1:c.1342G>T	NP_001269865.1:p.Val448Leu
NM_001282937.1:c.1342G>T	NP_001269866.1:p.Val448Leu
NM_001282938.1:c.1201G>T	NP_001269867.1:p.Val401Leu
NM_001282939.1:c.1201G>T	NP_001269868.1:p.Val401Leu
NM_003035.2:c.1342G>T	NP_003026.2:p.Val448Leu
XM_006710834.2:c.1342G>T	XP_006710897.1:p.Val448Leu
XM_011541991.1:c.1342G>T	XP_011540293.1:p.Val448Leu
XM_011541992.1:c.1342G>T	XP_011540294.1:p.Val448Leu
XM_011541993.1:c.1342G>T	XP_011540295.1:p.Val448Leu
XM_011541994.1:c.1342G>T	XP_011540296.1:p.Val448Leu
XM_011541995.1:c.1342G>T	XP_011540297.1:p.Val448Leu
XM_011541996.1:c.1201G>T	XP_011540298.1:p.Val401Leu
XM_011541997.1:c.1201G>T	XP_011540299.1:p.Val401Leu
XM_011541998.1:c.1201G>T	XP_011540300.1:p.Val401Leu
XM_011541999.1:c.646G>T	XP_011540301.1:p.Val216Leu
XM_011542000.1:c.646G>T	XP_011540302.1:p.Val216Leu
XM_011542001.1:c.1342G>T	XP_011540303.1:p.Val448Leu
XR_946746.1:n.1497G>T
XM_006710834.3:c.1342G>T	XP_006710897.1:p.Val448Leu
XM_011541991.2:c.1342G>T	XP_011540293.1:p.Val448Leu
XM_011541992.2:c.1342G>T	XP_011540294.1:p.Val448Leu
XM_011541994.2:c.1342G>T	XP_011540296.1:p.Val448Leu
XM_011541996.2:c.1201G>T	XP_011540298.1:p.Val401Leu
XM_011541998.2:c.1201G>T	XP_011540300.1:p.Val401Leu
XM_011542001.2:c.1342G>T	XP_011540303.1:p.Val448Leu
XM_017002123.1:c.1201G>T	XP_016857612.1:p.Val401Leu
XM_017002124.1:c.631G>T	XP_016857613.1:p.Val211Leu
XM_017002125.1:c.1342G>T	XP_016857614.1:p.Val448Leu
XM_017002126.1:c.1342G>T	XP_016857615.1:p.Val448Leu
XM_017002127.1:c.1342G>T	XP_016857616.1:p.Val448Leu
XR_001737370.1:n.1497G>T
NM_001377417.1:c.1201G>T	NP_001364346.1:p.Val401Leu