Canonical Allele Identifier: CA841950

Gene: STIL

Linked Data

• ClinVar Variation Id: 297550
• ClinVar RCV Id: RCV000328856 ; RCV001850563 ; RCV002520498 ; RCV001260854
• dbSNP Id: rs369376550
• ExAC: 1:47717101 C / T
• gnomAD v2: 1-47717101-C-T
• gnomAD v3: 1-47251429-C-T
• gnomAD v4: 1-47251429-C-T
• MyVariant Identifiers: chr1:g.47717101C>T (hg19) ; chr1:g.47251429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47251429C>T , CM000663.2:g.47251429C>T	GRCh38
NC_000001.10:g.47717101C>T , CM000663.1:g.47717101C>T	GRCh37
NC_000001.9:g.47489688C>T	NCBI36
NG_012126.1:g.67719G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337817.10:c.3433G>A	ENSP00000337367.6:p.Asp1145Asn
ENST00000447475.7:c.3379G>A	ENSP00000411664.3:p.Asp1127Asn
ENST00000682940.1:n.2124G>A
ENST00000682977.1:c.3433G>A	ENSP00000506981.1:p.Asp1145Asn
ENST00000683977.1:c.2619G>A
ENST00000684618.1:n.2346G>A
ENST00000371877.8:c.3574G>A MANE Select	ENSP00000360944.3:p.Asp1192Asn
ENST00000337817.9:c.3433G>A	ENSP00000337367.6:p.Asp1145Asn
ENST00000360380.7:c.3571G>A	ENSP00000353544.3:p.Asp1191Asn
ENST00000371877.7:c.3574G>A	ENSP00000360944.3:p.Asp1192Asn
ENST00000396221.6:c.3520G>A	ENSP00000379523.2:p.Asp1174Asn
NM_001048166.1:c.3574G>A MANE Select	NP_001041631.1:p.Asp1192Asn
NM_001282936.1:c.3571G>A	NP_001269865.1:p.Asp1191Asn
NM_001282937.1:c.3520G>A	NP_001269866.1:p.Asp1174Asn
NM_001282938.1:c.3433G>A	NP_001269867.1:p.Asp1145Asn
NM_001282939.1:c.3379G>A	NP_001269868.1:p.Asp1127Asn
NM_003035.2:c.3571G>A	NP_003026.2:p.Asp1191Asn
XM_006710834.2:c.3574G>A	XP_006710897.1:p.Asp1192Asn
XM_011541991.1:c.3574G>A	XP_011540293.1:p.Asp1192Asn
XM_011541992.1:c.3574G>A	XP_011540294.1:p.Asp1192Asn
XM_011541993.1:c.3571G>A	XP_011540295.1:p.Asp1191Asn
XM_011541994.1:c.3520G>A	XP_011540296.1:p.Asp1174Asn
XM_011541995.1:c.3520G>A	XP_011540297.1:p.Asp1174Asn
XM_011541996.1:c.3433G>A	XP_011540298.1:p.Asp1145Asn
XM_011541997.1:c.3433G>A	XP_011540299.1:p.Asp1145Asn
XM_011541998.1:c.3379G>A	XP_011540300.1:p.Asp1127Asn
XM_011541999.1:c.2878G>A	XP_011540301.1:p.Asp960Asn
XM_011542000.1:c.2878G>A	XP_011540302.1:p.Asp960Asn
XM_006710834.3:c.3574G>A	XP_006710897.1:p.Asp1192Asn
XM_011541991.2:c.3574G>A	XP_011540293.1:p.Asp1192Asn
XM_011541992.2:c.3574G>A	XP_011540294.1:p.Asp1192Asn
XM_011541994.2:c.3520G>A	XP_011540296.1:p.Asp1174Asn
XM_011541996.2:c.3433G>A	XP_011540298.1:p.Asp1145Asn
XM_011541998.2:c.3379G>A	XP_011540300.1:p.Asp1127Asn
XM_011542001.2:c.*431G>A	XP_011540303.1:n.*431G>A
XM_017002123.1:c.3430G>A	XP_016857612.1:p.Asp1144Asn
XM_017002124.1:c.2863G>A	XP_016857613.1:p.Asp955Asn
XM_017002125.1:c.*431G>A	XP_016857614.1:n.*431G>A
XM_017002126.1:c.*431G>A	XP_016857615.1:n.*431G>A
XR_001737370.1:n.3848G>A
NM_001377417.1:c.3433G>A	NP_001364346.1:p.Asp1145Asn