Canonical Allele Identifier: CA412496380

Gene: SH3KBP1

Linked Data

• ClinVar Variation Id: 2817372
• ClinVar RCV Id: RCV003711235
• dbSNP Id: rs1569269422
• MyVariant Identifiers: chrX:g.19564088T>G (hg19) ; chrX:g.19545970T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19545970T>G , CM000685.2:g.19545970T>G	GRCh38
NC_000023.10:g.19564088T>G , CM000685.1:g.19564088T>G	GRCh37
NC_000023.9:g.19474009T>G	NCBI36
NG_021367.1:g.346657A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379726.8:c.1707A>C	ENSP00000369049.4:p.Arg569Ser
ENST00000494961.6:c.*953-3777A>C	ENSP00000514518.1:n.*953-3777A>C
ENST00000699666.1:c.*287A>C	ENSP00000514509.1:n.*287A>C
ENST00000699667.1:c.*1093A>C	ENSP00000514510.1:n.*1093A>C
ENST00000699668.1:c.1650A>C	ENSP00000514511.1:p.Arg550Ser
ENST00000699669.1:c.*1034-3777A>C	ENSP00000514512.1:n.*1034-3777A>C
ENST00000699670.1:c.1627-3777A>C	ENSP00000514513.1:n.1627-3777A>C
ENST00000699671.1:c.1570-3777A>C	ENSP00000514514.1:n.1570-3777A>C
ENST00000699672.1:c.*1235-3777A>C	ENSP00000514515.1:n.*1235-3777A>C
ENST00000699673.1:c.1495-3777A>C	ENSP00000514516.1:n.1495-3777A>C
ENST00000699674.1:c.1393-3777A>C	ENSP00000514517.1:n.1393-3777A>C
ENST00000699675.1:c.*1339-3777A>C	ENSP00000514519.1:n.*1339-3777A>C
ENST00000699676.1:c.1626+4004A>C	ENSP00000514520.1:n.1626+4004A>C
ENST00000699677.1:n.5728A>C
ENST00000699678.1:c.*659-3777A>C	ENSP00000514521.1:n.*659-3777A>C
ENST00000699679.1:c.1650A>C	ENSP00000514522.1:p.Arg550Ser
ENST00000699720.1:c.1450-3777A>C	ENSP00000514710.1:n.1450-3777A>C
ENST00000699721.1:c.912A>C	ENSP00000514544.1:p.Arg304Ser
ENST00000699722.1:n.1503A>C
ENST00000699723.1:c.1464A>C	ENSP00000514545.1:p.Arg488Ser
ENST00000699724.1:c.*1498A>C	ENSP00000514546.1:n.*1498A>C
ENST00000699725.1:c.1530A>C	ENSP00000514547.1:p.Arg510Ser
ENST00000699726.1:c.1473A>C	ENSP00000514711.1:p.Arg491Ser
ENST00000699727.1:c.*1447A>C	ENSP00000514548.1:n.*1447A>C
ENST00000699728.1:n.1543-3777A>C
ENST00000699729.1:c.1318-3777A>C	ENSP00000514549.1:n.1318-3777A>C
ENST00000699730.1:c.*1475-3777A>C	ENSP00000514550.1:n.*1475-3777A>C
ENST00000699731.1:c.1300-3777A>C	ENSP00000514551.1:n.1300-3777A>C
ENST00000699732.1:c.1393-3777A>C	ENSP00000514712.1:n.1393-3777A>C
ENST00000699733.1:c.1393-3777A>C	ENSP00000514713.1:n.1393-3777A>C
ENST00000699734.1:c.*1310-3777A>C	ENSP00000514552.1:n.*1310-3777A>C
ENST00000699735.1:c.*1367-3777A>C	ENSP00000514553.1:n.*1367-3777A>C
ENST00000699736.1:n.917-3777A>C
ENST00000699737.1:n.4883A>C
ENST00000699738.1:c.781-3777A>C	ENSP00000514555.1:n.781-3777A>C
ENST00000699739.1:n.531-3777A>C
ENST00000699740.1:n.576A>C
ENST00000699741.1:n.515A>C
ENST00000699742.1:c.1393-3777A>C	ENSP00000514714.1:n.1393-3777A>C
ENST00000397821.8:c.1575A>C MANE Select	ENSP00000380921.3:p.Arg525Ser
ENST00000379698.8:c.1464A>C	ENSP00000369020.4:p.Arg488Ser
ENST00000379716.5:c.861A>C	ENSP00000369039.1:p.Arg287Ser
ENST00000379726.7:c.1515A>C	ENSP00000369049.3:p.Arg505Ser
ENST00000397821.7:c.1575A>C	ENSP00000380921.3:p.Arg525Ser
NM_001024666.2:c.1464A>C	NP_001019837.1:p.Arg488Ser
NM_001184960.1:c.861A>C	NP_001171889.1:p.Arg287Ser
NM_031892.2:c.1575A>C	NP_114098.1:p.Arg525Ser
XM_005274494.1:c.1650A>C	XP_005274551.1:p.Arg550Ser
XM_011545498.1:c.1707A>C	XP_011543800.1:p.Arg569Ser
XM_011545499.1:c.1596A>C	XP_011543801.1:p.Arg532Ser
XM_011545500.1:c.1627-3777A>C	XP_011543802.1:n.1627-3777A>C
XM_011545502.1:c.912A>C	XP_011543804.1:p.Arg304Ser
NM_001353890.1:c.1495-3777A>C	NP_001340819.1:n.1495-3777A>C
NM_001353891.1:c.1650A>C	NP_001340820.1:p.Arg550Ser
NM_001353892.1:c.1570-3777A>C	NP_001340821.1:n.1570-3777A>C
NM_001353893.1:c.1473A>C	NP_001340822.1:p.Arg491Ser
NM_001353894.1:c.1393-3777A>C	NP_001340823.1:n.1393-3777A>C
NM_001353895.1:c.1450-3777A>C	NP_001340824.1:n.1450-3777A>C
NM_001353897.1:c.781-3777A>C	NP_001340826.1:n.781-3777A>C
XM_011545498.3:c.1707A>C	XP_011543800.1:p.Arg569Ser
XM_011545499.3:c.1596A>C	XP_011543801.1:p.Arg532Ser
XM_011545500.3:c.1627-3777A>C	XP_011543802.1:n.1627-3777A>C
XM_011545502.2:c.912A>C	XP_011543804.1:p.Arg304Ser
XM_017029460.1:c.1584A>C	XP_016884949.1:p.Arg528Ser
XM_017029461.1:c.1527A>C	XP_016884950.1:p.Arg509Ser
XM_017029464.2:c.1504-3777A>C	XP_016884953.1:n.1504-3777A>C
XM_017029465.2:c.1452A>C	XP_016884954.1:p.Arg484Ser
XM_017029467.2:c.1447-3777A>C	XP_016884956.1:n.1447-3777A>C
XM_017029468.2:c.1372-3777A>C	XP_016884957.1:n.1372-3777A>C
XM_017029469.1:c.792A>C	XP_016884958.1:p.Arg264Ser
NM_031892.3:c.1575A>C MANE Select	NP_114098.1:p.Arg525Ser
NM_001024666.3:c.1464A>C	NP_001019837.1:p.Arg488Ser
NM_001184960.2:c.861A>C	NP_001171889.1:p.Arg287Ser
NM_001353890.2:c.1495-3777A>C	NP_001340819.1:n.1495-3777A>C
NM_001353891.2:c.1650A>C	NP_001340820.1:p.Arg550Ser
NM_001353892.2:c.1570-3777A>C	NP_001340821.1:n.1570-3777A>C
NM_001353897.2:c.781-3777A>C	NP_001340826.1:n.781-3777A>C
NM_001353893.2:c.1473A>C	NP_001340822.1:p.Arg491Ser
NM_001353894.2:c.1393-3777A>C	NP_001340823.1:n.1393-3777A>C
NM_001353895.2:c.1450-3777A>C	NP_001340824.1:n.1450-3777A>C