Canonical Allele Identifier: CA374904991

Gene: RABEPK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125227996C>A , CM000671.2:g.125227996C>A	GRCh38
NC_000009.11:g.127990275C>A , CM000671.1:g.127990275C>A	GRCh37
NC_000009.10:g.127030096C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373538.8:c.613C>A MANE Select	ENSP00000362639.3:p.Leu205Ile
ENST00000259460.12:c.460C>A	ENSP00000259460.8:p.Leu154Ile
ENST00000373538.7:c.613C>A	ENSP00000362639.3:p.Leu205Ile
ENST00000394125.8:c.613C>A	ENSP00000377683.4:p.Leu205Ile
ENST00000628863.2:c.*219C>A	ENSP00000487422.1:n.*219C>A
NM_001174152.1:c.613C>A	NP_001167623.1:p.Leu205Ile
NM_001174153.1:c.460C>A	NP_001167624.1:p.Leu154Ile
NM_005833.3:c.613C>A	NP_005824.2:p.Leu205Ile
XM_005251640.3:c.637C>A	XP_005251697.1:p.Leu213Ile
XM_005251641.3:c.484C>A	XP_005251698.1:p.Leu162Ile
XM_005251642.3:c.475C>A	XP_005251699.1:p.Leu159Ile
XM_005251643.2:c.451C>A	XP_005251700.1:p.Leu151Ile
XM_005251644.3:c.322C>A	XP_005251701.1:p.Leu108Ile
XM_011518120.1:c.637C>A	XP_011516422.1:p.Leu213Ile
XM_005251640.5:c.637C>A	XP_005251697.1:p.Leu213Ile
XM_005251641.4:c.484C>A	XP_005251698.1:p.Leu162Ile
XM_005251642.4:c.475C>A	XP_005251699.1:p.Leu159Ile
XM_005251644.4:c.322C>A	XP_005251701.1:p.Leu108Ile
XM_011518120.2:c.637C>A	XP_011516422.1:p.Leu213Ile
XM_017014177.1:c.613C>A	XP_016869666.1:p.Leu205Ile
XM_017014178.1:c.451C>A	XP_016869667.1:p.Leu151Ile
XM_017014179.1:c.412C>A	XP_016869668.1:p.Leu138Ile
XM_017014180.1:c.298C>A	XP_016869669.1:p.Leu100Ile
XM_017014181.1:c.298C>A	XP_016869670.1:p.Leu100Ile
XM_017014182.1:c.298C>A	XP_016869671.1:p.Leu100Ile
XM_017014183.1:c.460C>A	XP_016869672.1:p.Leu154Ile
XM_024447373.1:c.613C>A	XP_024303141.1:p.Leu205Ile
XM_024447374.1:c.613C>A	XP_024303142.1:p.Leu205Ile
XM_024447375.1:c.451C>A	XP_024303143.1:p.Leu151Ile
XR_002956742.1:n.1108C>A
NM_005833.4:c.613C>A MANE Select	NP_005824.2:p.Leu205Ile
NM_001174152.2:c.613C>A	NP_001167623.1:p.Leu205Ile
NM_001174153.2:c.460C>A	NP_001167624.1:p.Leu154Ile