Canonical Allele Identifier: CA374905387

Gene: RABEPK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125232616C>G , CM000671.2:g.125232616C>G	GRCh38
NC_000009.11:g.127994895C>G , CM000671.1:g.127994895C>G	GRCh37
NC_000009.10:g.127034716C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373538.8:c.697C>G MANE Select	ENSP00000362639.3:p.Leu233Val
ENST00000259460.12:c.544C>G	ENSP00000259460.8:p.Leu182Val
ENST00000373538.7:c.697C>G	ENSP00000362639.3:p.Leu233Val
ENST00000394125.8:c.697C>G	ENSP00000377683.4:p.Leu233Val
ENST00000628863.2:c.*303C>G	ENSP00000487422.1:n.*303C>G
NM_001174152.1:c.697C>G	NP_001167623.1:p.Leu233Val
NM_001174153.1:c.544C>G	NP_001167624.1:p.Leu182Val
NM_005833.3:c.697C>G	NP_005824.2:p.Leu233Val
XM_005251640.3:c.721C>G	XP_005251697.1:p.Leu241Val
XM_005251641.3:c.568C>G	XP_005251698.1:p.Leu190Val
XM_005251642.3:c.559C>G	XP_005251699.1:p.Leu187Val
XM_005251643.2:c.535C>G	XP_005251700.1:p.Leu179Val
XM_005251644.3:c.406C>G	XP_005251701.1:p.Leu136Val
XM_011518120.1:c.721C>G	XP_011516422.1:p.Leu241Val
XM_005251640.5:c.721C>G	XP_005251697.1:p.Leu241Val
XM_005251641.4:c.568C>G	XP_005251698.1:p.Leu190Val
XM_005251642.4:c.559C>G	XP_005251699.1:p.Leu187Val
XM_005251644.4:c.406C>G	XP_005251701.1:p.Leu136Val
XM_011518120.2:c.721C>G	XP_011516422.1:p.Leu241Val
XM_017014177.1:c.697C>G	XP_016869666.1:p.Leu233Val
XM_017014178.1:c.535C>G	XP_016869667.1:p.Leu179Val
XM_017014179.1:c.496C>G	XP_016869668.1:p.Leu166Val
XM_017014180.1:c.382C>G	XP_016869669.1:p.Leu128Val
XM_017014181.1:c.382C>G	XP_016869670.1:p.Leu128Val
XM_017014182.1:c.382C>G	XP_016869671.1:p.Leu128Val
XM_017014183.1:c.544C>G	XP_016869672.1:p.Leu182Val
XM_024447373.1:c.697C>G	XP_024303141.1:p.Leu233Val
XM_024447374.1:c.697C>G	XP_024303142.1:p.Leu233Val
XM_024447375.1:c.535C>G	XP_024303143.1:p.Leu179Val
XR_002956742.1:n.1192C>G
NM_005833.4:c.697C>G MANE Select	NP_005824.2:p.Leu233Val
NM_001174152.2:c.697C>G	NP_001167623.1:p.Leu233Val
NM_001174153.2:c.544C>G	NP_001167624.1:p.Leu182Val