Canonical Allele Identifier: CA5239356

Gene: RABEPK

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.125220697G>C , CM000671.2:g.125220697G>C	GRCh38
NC_000009.11:g.127982976G>C , CM000671.1:g.127982976G>C	GRCh37
NC_000009.10:g.127022797G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373538.8:c.523G>C MANE Select	ENSP00000362639.3:p.Ala175Pro
ENST00000259460.12:c.370G>C	ENSP00000259460.8:p.Ala124Pro
ENST00000373538.7:c.523G>C	ENSP00000362639.3:p.Ala175Pro
ENST00000373544.5:c.*129G>C	ENSP00000362645.1:n.*129G>C
ENST00000394125.8:c.523G>C	ENSP00000377683.4:p.Ala175Pro
ENST00000628863.2:c.*129G>C	ENSP00000487422.1:n.*129G>C
NM_001174152.1:c.523G>C	NP_001167623.1:p.Ala175Pro
NM_001174153.1:c.370G>C	NP_001167624.1:p.Ala124Pro
NM_005833.3:c.523G>C	NP_005824.2:p.Ala175Pro
XM_005251640.3:c.547G>C	XP_005251697.1:p.Ala183Pro
XM_005251641.3:c.394G>C	XP_005251698.1:p.Ala132Pro
XM_005251642.3:c.388+7175G>C	XP_005251699.1:n.388+7175G>C
XM_005251643.2:c.364+7175G>C	XP_005251700.1:n.364+7175G>C
XM_005251644.3:c.236-7213G>C	XP_005251701.1:n.236-7213G>C
XM_011518120.1:c.547G>C	XP_011516422.1:p.Ala183Pro
XM_005251640.5:c.547G>C	XP_005251697.1:p.Ala183Pro
XM_005251641.4:c.394G>C	XP_005251698.1:p.Ala132Pro
XM_005251642.4:c.388+7175G>C	XP_005251699.1:n.388+7175G>C
XM_005251644.4:c.236-7213G>C	XP_005251701.1:n.236-7213G>C
XM_011518120.2:c.547G>C	XP_011516422.1:p.Ala183Pro
XM_017014177.1:c.523G>C	XP_016869666.1:p.Ala175Pro
XM_017014178.1:c.364+7175G>C	XP_016869667.1:n.364+7175G>C
XM_017014179.1:c.322G>C	XP_016869668.1:p.Ala108Pro
XM_017014180.1:c.212-7213G>C	XP_016869669.1:n.212-7213G>C
XM_017014181.1:c.212-7213G>C	XP_016869670.1:n.212-7213G>C
XM_017014182.1:c.212-7213G>C	XP_016869671.1:n.212-7213G>C
XM_017014183.1:c.370G>C	XP_016869672.1:p.Ala124Pro
XM_024447373.1:c.523G>C	XP_024303141.1:p.Ala175Pro
XM_024447374.1:c.523G>C	XP_024303142.1:p.Ala175Pro
XM_024447375.1:c.364+7175G>C	XP_024303143.1:n.364+7175G>C
XR_002956742.1:n.1018G>C
NM_005833.4:c.523G>C MANE Select	NP_005824.2:p.Ala175Pro
NM_001174152.2:c.523G>C	NP_001167623.1:p.Ala175Pro
NM_001174153.2:c.370G>C	NP_001167624.1:p.Ala124Pro