Canonical Allele Identifier: CA412495664

Gene: SH3KBP1

Linked Data

• MyVariant Identifiers: chrX:g.19560081C>A (hg19) ; chrX:g.19541963C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.19541963C>A , CM000685.2:g.19541963C>A	GRCh38
NC_000023.10:g.19560081C>A , CM000685.1:g.19560081C>A	GRCh37
NC_000023.9:g.19470002C>A	NCBI36
NG_021367.1:g.350664G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379726.8:c.1986G>T	ENSP00000369049.4:p.Glu662Asp
ENST00000494961.6:c.*1183G>T	ENSP00000514518.1:n.*1183G>T
ENST00000699666.1:c.*566G>T	ENSP00000514509.1:n.*566G>T
ENST00000699667.1:c.*1372G>T	ENSP00000514510.1:n.*1372G>T
ENST00000699668.1:c.1929G>T	ENSP00000514511.1:p.Glu643Asp
ENST00000699669.1:c.*1264G>T	ENSP00000514512.1:n.*1264G>T
ENST00000699670.1:c.1857G>T	ENSP00000514513.1:p.Glu619Asp
ENST00000699671.1:c.1800G>T	ENSP00000514514.1:p.Glu600Asp
ENST00000699672.1:c.*1465G>T	ENSP00000514515.1:n.*1465G>T
ENST00000699673.1:c.1725G>T	ENSP00000514516.1:p.Glu575Asp
ENST00000699674.1:c.1623G>T	ENSP00000514517.1:p.Glu541Asp
ENST00000699675.1:c.*1569G>T	ENSP00000514519.1:n.*1569G>T
ENST00000699676.1:c.1627-4183G>T	ENSP00000514520.1:n.1627-4183G>T
ENST00000699677.1:n.9735G>T
ENST00000699678.1:c.*889G>T	ENSP00000514521.1:n.*889G>T
ENST00000699679.1:c.1929G>T	ENSP00000514522.1:p.Glu643Asp
ENST00000699720.1:c.1680G>T	ENSP00000514710.1:p.Glu560Asp
ENST00000699721.1:c.1191G>T	ENSP00000514544.1:p.Glu397Asp
ENST00000699722.1:n.1782G>T
ENST00000699723.1:c.1743G>T	ENSP00000514545.1:p.Glu581Asp
ENST00000699724.1:c.*1777G>T	ENSP00000514546.1:n.*1777G>T
ENST00000699725.1:c.1809G>T	ENSP00000514547.1:p.Glu603Asp
ENST00000699726.1:c.1752G>T	ENSP00000514711.1:p.Glu584Asp
ENST00000699727.1:c.*1726G>T	ENSP00000514548.1:n.*1726G>T
ENST00000699728.1:n.1773G>T
ENST00000699729.1:c.1548G>T	ENSP00000514549.1:p.Glu516Asp
ENST00000699730.1:c.*1705G>T	ENSP00000514550.1:n.*1705G>T
ENST00000699731.1:c.1530G>T	ENSP00000514551.1:p.Glu510Asp
ENST00000699732.1:c.1623G>T	ENSP00000514712.1:p.Glu541Asp
ENST00000699733.1:c.1623G>T	ENSP00000514713.1:p.Glu541Asp
ENST00000699734.1:c.*1540G>T	ENSP00000514552.1:n.*1540G>T
ENST00000699735.1:c.*1597G>T	ENSP00000514553.1:n.*1597G>T
ENST00000699736.1:n.1147G>T
ENST00000699737.1:n.5162G>T
ENST00000699738.1:c.1011G>T	ENSP00000514555.1:p.Glu337Asp
ENST00000699739.1:n.761G>T
ENST00000699740.1:n.855G>T
ENST00000699741.1:n.563+3959G>T
ENST00000699742.1:c.1623G>T	ENSP00000514714.1:p.Glu541Asp
ENST00000397821.8:c.1854G>T MANE Select	ENSP00000380921.3:p.Glu618Asp
ENST00000379698.8:c.1743G>T	ENSP00000369020.4:p.Glu581Asp
ENST00000379716.5:c.1140G>T	ENSP00000369039.1:p.Glu380Asp
ENST00000379726.7:c.1794G>T	ENSP00000369049.3:p.Glu598Asp
ENST00000397821.7:c.1854G>T	ENSP00000380921.3:p.Glu618Asp
NM_001024666.2:c.1743G>T	NP_001019837.1:p.Glu581Asp
NM_001184960.1:c.1140G>T	NP_001171889.1:p.Glu380Asp
NM_031892.2:c.1854G>T	NP_114098.1:p.Glu618Asp
XM_005274494.1:c.1929G>T	XP_005274551.1:p.Glu643Asp
XM_011545498.1:c.1986G>T	XP_011543800.1:p.Glu662Asp
XM_011545499.1:c.1875G>T	XP_011543801.1:p.Glu625Asp
XM_011545500.1:c.1857G>T	XP_011543802.1:p.Glu619Asp
XM_011545502.1:c.1191G>T	XP_011543804.1:p.Glu397Asp
NM_001353890.1:c.1725G>T	NP_001340819.1:p.Glu575Asp
NM_001353891.1:c.1929G>T	NP_001340820.1:p.Glu643Asp
NM_001353892.1:c.1800G>T	NP_001340821.1:p.Glu600Asp
NM_001353893.1:c.1752G>T	NP_001340822.1:p.Glu584Asp
NM_001353894.1:c.1623G>T	NP_001340823.1:p.Glu541Asp
NM_001353895.1:c.1680G>T	NP_001340824.1:p.Glu560Asp
NM_001353897.1:c.1011G>T	NP_001340826.1:p.Glu337Asp
XM_011545498.3:c.1986G>T	XP_011543800.1:p.Glu662Asp
XM_011545499.3:c.1875G>T	XP_011543801.1:p.Glu625Asp
XM_011545500.3:c.1857G>T	XP_011543802.1:p.Glu619Asp
XM_011545502.2:c.1191G>T	XP_011543804.1:p.Glu397Asp
XM_017029460.1:c.1863G>T	XP_016884949.1:p.Glu621Asp
XM_017029461.1:c.1806G>T	XP_016884950.1:p.Glu602Asp
XM_017029464.2:c.1734G>T	XP_016884953.1:p.Glu578Asp
XM_017029465.2:c.1731G>T	XP_016884954.1:p.Glu577Asp
XM_017029467.2:c.1677G>T	XP_016884956.1:p.Glu559Asp
XM_017029468.2:c.1602G>T	XP_016884957.1:p.Glu534Asp
XM_017029469.1:c.1071G>T	XP_016884958.1:p.Glu357Asp
NM_031892.3:c.1854G>T MANE Select	NP_114098.1:p.Glu618Asp
NM_001024666.3:c.1743G>T	NP_001019837.1:p.Glu581Asp
NM_001184960.2:c.1140G>T	NP_001171889.1:p.Glu380Asp
NM_001353890.2:c.1725G>T	NP_001340819.1:p.Glu575Asp
NM_001353891.2:c.1929G>T	NP_001340820.1:p.Glu643Asp
NM_001353892.2:c.1800G>T	NP_001340821.1:p.Glu600Asp
NM_001353897.2:c.1011G>T	NP_001340826.1:p.Glu337Asp
NM_001353893.2:c.1752G>T	NP_001340822.1:p.Glu584Asp
NM_001353894.2:c.1623G>T	NP_001340823.1:p.Glu541Asp
NM_001353895.2:c.1680G>T	NP_001340824.1:p.Glu560Asp