Canonical Allele Identifier: CA2639075593

Gene: RPS6KB1

Linked Data

• gnomAD v4: 17-59946922-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59946922G>T , CM000679.2:g.59946922G>T	GRCh38
NC_000017.10:g.58024283G>T , CM000679.1:g.58024283G>T	GRCh37
NC_000017.9:g.55379065G>T	NCBI36
NG_029513.1:g.58841G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225577.9:c.*134G>T MANE Select	ENSP00000225577.4:n.*134G>T
ENST00000225577.8:c.*134G>T	ENSP00000225577.4:n.*134G>T
ENST00000393021.7:c.*134G>T	ENSP00000376744.3:n.*134G>T
ENST00000406116.7:c.1341-665G>T	ENSP00000384335.3:n.1341-665G>T
ENST00000443572.6:c.*134G>T	ENSP00000441993.1:n.*134G>T
ENST00000472940.5:c.*1747G>T	ENSP00000468058.1:n.*1747G>T
ENST00000475155.1:n.700G>T
ENST00000591035.1:c.149+1404G>T	ENSP00000468280.1:n.149+1404G>T
NM_001272042.1:c.*134G>T	NP_001258971.1:n.*134G>T
NM_001272043.1:c.1341-665G>T	NP_001258972.1:n.1341-665G>T
NM_001272044.1:c.*134G>T	NP_001258973.1:n.*134G>T
NM_001272060.1:c.*134G>T	NP_001258989.1:n.*134G>T
NM_003161.3:c.*134G>T	NP_003152.1:n.*134G>T
XM_011525101.1:c.*134G>T	XP_011523403.1:n.*134G>T
XM_011525103.1:c.*134G>T	XP_011523405.1:n.*134G>T
XM_011525104.1:c.*134G>T	XP_011523406.1:n.*134G>T
XM_011525101.3:c.*134G>T	XP_011523403.1:n.*134G>T
XM_011525103.3:c.*134G>T	XP_011523405.1:n.*134G>T
XM_017024929.1:c.*134G>T	XP_016880418.1:n.*134G>T
XM_017024930.2:c.*134G>T	XP_016880419.1:n.*134G>T
XM_017024931.2:c.*134G>T	XP_016880420.1:n.*134G>T
XM_017024932.2:c.*134G>T	XP_016880421.1:n.*134G>T
XM_017024933.2:c.*134G>T	XP_016880422.1:n.*134G>T
XR_001752581.2:n.1958G>T
XR_001752582.2:n.1765G>T
XR_001752583.2:n.1657G>T
XR_002958051.1:n.3449G>T
NM_003161.4:c.*134G>T MANE Select	NP_003152.1:n.*134G>T
NM_001272043.2:c.1341-665G>T	NP_001258972.1:n.1341-665G>T
NM_001369669.1:c.*134G>T	NP_001356598.1:n.*134G>T
NM_001369670.1:c.*134G>T	NP_001356599.1:n.*134G>T
NM_001369671.1:c.*134G>T	NP_001356600.1:n.*134G>T
NM_001369672.1:c.*134G>T	NP_001356601.1:n.*134G>T
NM_001369673.1:c.*1163G>T	NP_001356602.1:n.*1163G>T
NM_001369674.1:c.*1305G>T	NP_001356603.1:n.*1305G>T
NM_001369675.1:c.*1197G>T	NP_001356604.1:n.*1197G>T
NM_001369676.1:c.*1066G>T	NP_001356605.1:n.*1066G>T
NM_001369677.1:c.*1416G>T	NP_001356606.1:n.*1416G>T
NM_001369678.1:c.*1163G>T	NP_001356607.1:n.*1163G>T
NM_001369679.1:c.*1420G>T	NP_001356608.1:n.*1420G>T
NR_161455.1:n.1628G>T
NR_161456.1:n.1779G>T
NR_161457.1:n.1675G>T
NR_161458.1:n.1973G>T
NR_161459.1:n.1754G>T
NR_161460.1:n.2019G>T
NR_161461.1:n.1780G>T
NR_161462.1:n.1672G>T
NM_001272042.2:c.*134G>T	NP_001258971.1:n.*134G>T
NM_001272044.2:c.*134G>T	NP_001258973.1:n.*134G>T
NM_001272060.2:c.*134G>T	NP_001258989.1:n.*134G>T