Canonical Allele Identifier: CA10611340

Gene: STIL

Linked Data

• ClinVar Variation Id: 297549
• ClinVar RCV Id: RCV000271503
• dbSNP Id: rs765271015
• gnomAD v4: 1-47250884-T-C
• MyVariant Identifiers: chr1:g.47716556T>C (hg19) ; chr1:g.47250884T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.47250884T>C , CM000663.2:g.47250884T>C	GRCh38
NC_000001.10:g.47716556T>C , CM000663.1:g.47716556T>C	GRCh37
NC_000001.9:g.47489143T>C	NCBI36
NG_012126.1:g.68264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337817.10:c.*252A>G	ENSP00000337367.6:n.*252A>G
ENST00000682940.1:n.2669A>G
ENST00000682977.1:c.*252A>G	ENSP00000506981.1:n.*252A>G
ENST00000683977.1:c.3164A>G
ENST00000684618.1:n.2891A>G
ENST00000371877.8:c.*252A>G MANE Select	ENSP00000360944.3:n.*252A>G
ENST00000337817.9:c.*252A>G	ENSP00000337367.6:n.*252A>G
ENST00000360380.7:c.*252A>G	ENSP00000353544.3:n.*252A>G
ENST00000371877.7:c.*252A>G	ENSP00000360944.3:n.*252A>G
ENST00000396221.6:c.*252A>G	ENSP00000379523.2:n.*252A>G
NM_001048166.1:c.*252A>G MANE Select	NP_001041631.1:n.*252A>G
NM_001282936.1:c.*252A>G	NP_001269865.1:n.*252A>G
NM_001282937.1:c.*252A>G	NP_001269866.1:n.*252A>G
NM_001282938.1:c.*252A>G	NP_001269867.1:n.*252A>G
NM_001282939.1:c.*252A>G	NP_001269868.1:n.*252A>G
NM_003035.2:c.*252A>G	NP_003026.2:n.*252A>G
XM_006710834.2:c.*252A>G	XP_006710897.1:n.*252A>G
XM_011541991.1:c.*252A>G	XP_011540293.1:n.*252A>G
XM_011541992.1:c.*252A>G	XP_011540294.1:n.*252A>G
XM_011541993.1:c.*252A>G	XP_011540295.1:n.*252A>G
XM_011541994.1:c.*252A>G	XP_011540296.1:n.*252A>G
XM_011541995.1:c.*252A>G	XP_011540297.1:n.*252A>G
XM_011541996.1:c.*252A>G	XP_011540298.1:n.*252A>G
XM_011541997.1:c.*252A>G	XP_011540299.1:n.*252A>G
XM_011541998.1:c.*252A>G	XP_011540300.1:n.*252A>G
XM_011541999.1:c.*252A>G	XP_011540301.1:n.*252A>G
XM_011542000.1:c.*252A>G	XP_011540302.1:n.*252A>G
XM_011541996.2:c.*252A>G	XP_011540298.1:n.*252A>G
XM_011542001.2:c.*976A>G	XP_011540303.1:n.*976A>G
XM_017002123.1:c.*252A>G	XP_016857612.1:n.*252A>G
XM_017002124.1:c.*252A>G	XP_016857613.1:n.*252A>G
XR_001737370.1:n.4393A>G
NM_001377417.1:c.*252A>G	NP_001364346.1:n.*252A>G