Canonical Allele Identifier: CA5239326

Gene: RABEPK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125220580C>T , CM000671.2:g.125220580C>T	GRCh38
NC_000009.11:g.127982859C>T , CM000671.1:g.127982859C>T	GRCh37
NC_000009.10:g.127022680C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373538.8:c.406C>T MANE Select	ENSP00000362639.3:p.Pro136Ser
ENST00000259460.12:c.253C>T	ENSP00000259460.8:p.Pro85Ser
ENST00000373538.7:c.406C>T	ENSP00000362639.3:p.Pro136Ser
ENST00000373544.5:c.*12C>T	ENSP00000362645.1:n.*12C>T
ENST00000394125.8:c.406C>T	ENSP00000377683.4:p.Pro136Ser
ENST00000416065.1:c.655C>T	ENSP00000402234.1:p.Pro219Ser
ENST00000628863.2:c.*12C>T	ENSP00000487422.1:n.*12C>T
NM_001174152.1:c.406C>T	NP_001167623.1:p.Pro136Ser
NM_001174153.1:c.253C>T	NP_001167624.1:p.Pro85Ser
NM_005833.3:c.406C>T	NP_005824.2:p.Pro136Ser
XM_005251640.3:c.430C>T	XP_005251697.1:p.Pro144Ser
XM_005251641.3:c.277C>T	XP_005251698.1:p.Pro93Ser
XM_005251642.3:c.388+7058C>T	XP_005251699.1:n.388+7058C>T
XM_005251643.2:c.364+7058C>T	XP_005251700.1:n.364+7058C>T
XM_005251644.3:c.236-7330C>T	XP_005251701.1:n.236-7330C>T
XM_011518120.1:c.430C>T	XP_011516422.1:p.Pro144Ser
XM_005251640.5:c.430C>T	XP_005251697.1:p.Pro144Ser
XM_005251641.4:c.277C>T	XP_005251698.1:p.Pro93Ser
XM_005251642.4:c.388+7058C>T	XP_005251699.1:n.388+7058C>T
XM_005251644.4:c.236-7330C>T	XP_005251701.1:n.236-7330C>T
XM_011518120.2:c.430C>T	XP_011516422.1:p.Pro144Ser
XM_017014177.1:c.406C>T	XP_016869666.1:p.Pro136Ser
XM_017014178.1:c.364+7058C>T	XP_016869667.1:n.364+7058C>T
XM_017014179.1:c.205C>T	XP_016869668.1:p.Pro69Ser
XM_017014180.1:c.212-7330C>T	XP_016869669.1:n.212-7330C>T
XM_017014181.1:c.212-7330C>T	XP_016869670.1:n.212-7330C>T
XM_017014182.1:c.212-7330C>T	XP_016869671.1:n.212-7330C>T
XM_017014183.1:c.253C>T	XP_016869672.1:p.Pro85Ser
XM_024447373.1:c.406C>T	XP_024303141.1:p.Pro136Ser
XM_024447374.1:c.406C>T	XP_024303142.1:p.Pro136Ser
XM_024447375.1:c.364+7058C>T	XP_024303143.1:n.364+7058C>T
XR_002956742.1:n.901C>T
NM_005833.4:c.406C>T MANE Select	NP_005824.2:p.Pro136Ser
NM_001174152.2:c.406C>T	NP_001167623.1:p.Pro136Ser
NM_001174153.2:c.253C>T	NP_001167624.1:p.Pro85Ser