Canonical Allele Identifier: CA8639103

Gene: SPOP

Linked Data

• ClinVar Variation Id: 694141
• ClinVar RCV Id: RCV001030892
• dbSNP Id: rs780244378
• ExAC: 17:47696698 G / A
• gnomAD v2: 17-47696698-G-A
• gnomAD v4: 17-49619336-G-A
• MyVariant Identifiers: chr17:g.47696698G>A (hg19) ; chr17:g.49619336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.49619336G>A , CM000679.2:g.49619336G>A	GRCh38
NC_000017.10:g.47696698G>A , CM000679.1:g.47696698G>A	GRCh37
NC_000017.9:g.45051697G>A	NCBI36
NG_041815.1:g.63828C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000504102.6:c.250C>T MANE Select	ENSP00000425905.1:p.Leu84=
ENST00000509079.6:c.250C>T	ENSP00000426986.2:p.Leu84=
ENST00000513080.6:c.*99C>T	ENSP00000499333.1:n.*99C>T
ENST00000514121.6:c.250C>T	ENSP00000424119.2:p.Leu84=
ENST00000659760.1:c.250C>T	ENSP00000499367.1:p.Leu84=
ENST00000665825.1:c.250C>T	ENSP00000499562.1:p.Leu84=
ENST00000671445.1:c.*99C>T	ENSP00000499537.1:n.*99C>T
ENST00000347630.6:c.250C>T	ENSP00000240327.2:p.Leu84=
ENST00000393328.6:c.250C>T	ENSP00000377001.2:p.Leu84=
ENST00000503676.5:c.250C>T	ENSP00000420908.1:p.Leu84=
ENST00000504102.5:c.250C>T	ENSP00000425905.1:p.Leu84=
ENST00000504212.5:c.*193C>T	ENSP00000422609.1:n.*193C>T
ENST00000505581.5:c.250C>T	ENSP00000420960.1:p.Leu84=
ENST00000506399.5:c.*193C>T	ENSP00000425604.1:n.*193C>T
ENST00000507970.5:c.250C>T	ENSP00000426262.1:p.Leu84=
ENST00000509079.5:c.250C>T	ENSP00000426986.1:p.Leu84=
ENST00000513080.5:n.547C>T
ENST00000514121.5:c.250C>T	ENSP00000424119.1:p.Leu84=
ENST00000515508.6:c.250C>T	ENSP00000426537.2:p.Leu84=
NM_001007226.1:c.250C>T	NP_001007227.1:p.Leu84=
NM_001007227.1:c.250C>T	NP_001007228.1:p.Leu84=
NM_001007228.1:c.250C>T	NP_001007229.1:p.Leu84=
NM_001007229.1:c.250C>T	NP_001007230.1:p.Leu84=
NM_001007230.1:c.250C>T	NP_001007231.1:p.Leu84=
NM_003563.3:c.250C>T	NP_003554.1:p.Leu84=
XM_005257723.3:c.250C>T	XP_005257780.1:p.Leu84=
XM_005257724.3:c.250C>T	XP_005257781.1:p.Leu84=
XM_005257723.4:c.250C>T	XP_005257780.1:p.Leu84=
XM_005257724.4:c.250C>T	XP_005257781.1:p.Leu84=
XM_017025204.1:c.250C>T	XP_016880693.1:p.Leu84=
XM_024450995.1:c.250C>T	XP_024306763.1:p.Leu84=
NM_001007228.2:c.250C>T MANE Select	NP_001007229.1:p.Leu84=
NM_001370730.1:c.250C>T	NP_001357659.1:p.Leu84=
NM_001370731.1:c.250C>T	NP_001357660.1:p.Leu84=
NM_001370732.1:c.250C>T	NP_001357661.1:p.Leu84=