Canonical Allele Identifier: CA374904908

Gene: RABEPK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125227952C>T , CM000671.2:g.125227952C>T	GRCh38
NC_000009.11:g.127990231C>T , CM000671.1:g.127990231C>T	GRCh37
NC_000009.10:g.127030052C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373538.8:c.569C>T MANE Select	ENSP00000362639.3:p.Pro190Leu
ENST00000259460.12:c.416C>T	ENSP00000259460.8:p.Pro139Leu
ENST00000373538.7:c.569C>T	ENSP00000362639.3:p.Pro190Leu
ENST00000394125.8:c.569C>T	ENSP00000377683.4:p.Pro190Leu
ENST00000628863.2:c.*175C>T	ENSP00000487422.1:n.*175C>T
NM_001174152.1:c.569C>T	NP_001167623.1:p.Pro190Leu
NM_001174153.1:c.416C>T	NP_001167624.1:p.Pro139Leu
NM_005833.3:c.569C>T	NP_005824.2:p.Pro190Leu
XM_005251640.3:c.593C>T	XP_005251697.1:p.Pro198Leu
XM_005251641.3:c.440C>T	XP_005251698.1:p.Pro147Leu
XM_005251642.3:c.431C>T	XP_005251699.1:p.Pro144Leu
XM_005251643.2:c.407C>T	XP_005251700.1:p.Pro136Leu
XM_005251644.3:c.278C>T	XP_005251701.1:p.Pro93Leu
XM_011518120.1:c.593C>T	XP_011516422.1:p.Pro198Leu
XM_005251640.5:c.593C>T	XP_005251697.1:p.Pro198Leu
XM_005251641.4:c.440C>T	XP_005251698.1:p.Pro147Leu
XM_005251642.4:c.431C>T	XP_005251699.1:p.Pro144Leu
XM_005251644.4:c.278C>T	XP_005251701.1:p.Pro93Leu
XM_011518120.2:c.593C>T	XP_011516422.1:p.Pro198Leu
XM_017014177.1:c.569C>T	XP_016869666.1:p.Pro190Leu
XM_017014178.1:c.407C>T	XP_016869667.1:p.Pro136Leu
XM_017014179.1:c.368C>T	XP_016869668.1:p.Pro123Leu
XM_017014180.1:c.254C>T	XP_016869669.1:p.Pro85Leu
XM_017014181.1:c.254C>T	XP_016869670.1:p.Pro85Leu
XM_017014182.1:c.254C>T	XP_016869671.1:p.Pro85Leu
XM_017014183.1:c.416C>T	XP_016869672.1:p.Pro139Leu
XM_024447373.1:c.569C>T	XP_024303141.1:p.Pro190Leu
XM_024447374.1:c.569C>T	XP_024303142.1:p.Pro190Leu
XM_024447375.1:c.407C>T	XP_024303143.1:p.Pro136Leu
XR_002956742.1:n.1064C>T
NM_005833.4:c.569C>T MANE Select	NP_005824.2:p.Pro190Leu
NM_001174152.2:c.569C>T	NP_001167623.1:p.Pro190Leu
NM_001174153.2:c.416C>T	NP_001167624.1:p.Pro139Leu