Canonical Allele Identifier: CA400434230

Gene: RPS6KB1

Linked Data

• ClinVar Variation Id: 2474379
• ClinVar RCV Id: RCV004266689
• MyVariant Identifiers: chr17:g.58024001A>C (hg19) ; chr17:g.59946640A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59946640A>C , CM000679.2:g.59946640A>C	GRCh38
NC_000017.10:g.58024001A>C , CM000679.1:g.58024001A>C	GRCh37
NC_000017.9:g.55378783A>C	NCBI36
NG_029513.1:g.58559A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225577.9:c.1430A>C MANE Select	ENSP00000225577.4:p.Glu477Ala
ENST00000225577.8:c.1430A>C	ENSP00000225577.4:p.Glu477Ala
ENST00000393021.7:c.1271A>C	ENSP00000376744.3:p.Glu424Ala
ENST00000406116.7:c.1341-947A>C	ENSP00000384335.3:n.1341-947A>C
ENST00000443572.6:c.1361A>C	ENSP00000441993.1:p.Glu454Ala
ENST00000472940.5:c.*1465A>C	ENSP00000468058.1:n.*1465A>C
ENST00000475155.1:n.418A>C
ENST00000591035.1:c.149+1122A>C	ENSP00000468280.1:n.149+1122A>C
NM_001272042.1:c.1361A>C	NP_001258971.1:p.Glu454Ala
NM_001272043.1:c.1341-947A>C	NP_001258972.1:n.1341-947A>C
NM_001272044.1:c.1271A>C	NP_001258973.1:p.Glu424Ala
NM_001272060.1:c.1361A>C	NP_001258989.1:p.Glu454Ala
NM_003161.3:c.1430A>C	NP_003152.1:p.Glu477Ala
XM_011525101.1:c.1322A>C	XP_011523403.1:p.Glu441Ala
XM_011525103.1:c.821A>C	XP_011523405.1:p.Glu274Ala
XM_011525104.1:c.821A>C	XP_011523406.1:p.Glu274Ala
XM_011525101.3:c.1322A>C	XP_011523403.1:p.Glu441Ala
XM_011525103.3:c.821A>C	XP_011523405.1:p.Glu274Ala
XM_017024929.1:c.1163A>C	XP_016880418.1:p.Glu388Ala
XM_017024930.2:c.821A>C	XP_016880419.1:p.Glu274Ala
XM_017024931.2:c.821A>C	XP_016880420.1:p.Glu274Ala
XM_017024932.2:c.821A>C	XP_016880421.1:p.Glu274Ala
XM_017024933.2:c.713A>C	XP_016880422.1:p.Glu238Ala
XR_001752581.2:n.1676A>C
XR_001752582.2:n.1483A>C
XR_001752583.2:n.1375A>C
XR_002958051.1:n.3167A>C
NM_003161.4:c.1430A>C MANE Select	NP_003152.1:p.Glu477Ala
NM_001272043.2:c.1341-947A>C	NP_001258972.1:n.1341-947A>C
NM_001369669.1:c.1322A>C	NP_001356598.1:p.Glu441Ala
NM_001369670.1:c.1208A>C	NP_001356599.1:p.Glu403Ala
NM_001369671.1:c.1190A>C	NP_001356600.1:p.Glu397Ala
NM_001369672.1:c.1163A>C	NP_001356601.1:p.Glu388Ala
NM_001369673.1:c.*881A>C	NP_001356602.1:n.*881A>C
NM_001369674.1:c.*1023A>C	NP_001356603.1:n.*1023A>C
NM_001369675.1:c.*915A>C	NP_001356604.1:n.*915A>C
NM_001369676.1:c.*784A>C	NP_001356605.1:n.*784A>C
NM_001369677.1:c.*1134A>C	NP_001356606.1:n.*1134A>C
NM_001369678.1:c.*881A>C	NP_001356607.1:n.*881A>C
NM_001369679.1:c.*1138A>C	NP_001356608.1:n.*1138A>C
NR_161455.1:n.1346A>C
NR_161456.1:n.1497A>C
NR_161457.1:n.1393A>C
NR_161458.1:n.1691A>C
NR_161459.1:n.1472A>C
NR_161460.1:n.1737A>C
NR_161461.1:n.1498A>C
NR_161462.1:n.1390A>C
NM_001272042.2:c.1361A>C	NP_001258971.1:p.Glu454Ala
NM_001272044.2:c.1271A>C	NP_001258973.1:p.Glu424Ala
NM_001272060.2:c.1361A>C	NP_001258989.1:p.Glu454Ala