Canonical Allele Identifier: CA391122703

Gene: PPP1R13B

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103738950A>G , CM000676.2:g.103738950A>G	GRCh38
NC_000014.8:g.104205287A>G , CM000676.1:g.104205287A>G	GRCh37
NC_000014.7:g.103275040A>G	NCBI36
NG_046915.1:g.115018T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015316.3:c.2666T>C MANE Select	NP_056131.2:p.Leu889Pro
ENST00000202556.14:c.2666T>C MANE Select	ENSP00000202556.9:p.Leu889Pro
NM_015316.2:c.2666T>C	NP_056131.2:p.Leu889Pro
ENST00000202556.13:c.2666T>C	ENSP00000202556.9:p.Leu889Pro
ENST00000554432.1:n.307T>C
ENST00000555391.5:n.1641T>C
ENST00000556325.1:n.348T>C
ENST00000556334.5:n.323T>C
ENST00000556597.1:c.1632T>C
ENST00000557082.5:c.*2911T>C	ENSP00000451396.1:n.*2911T>C
ENST00000647748.1:c.2621T>C	ENSP00000497343.1:p.Leu874Pro
XM_005267487.3:c.2870T>C	XP_005267544.1:p.Leu957Pro
XM_005267487.5:c.2870T>C	XP_005267544.1:p.Leu957Pro
XM_011536592.1:c.2975T>C	XP_011534894.1:p.Leu992Pro
XM_011536593.1:c.2975T>C	XP_011534895.1:p.Leu992Pro
XM_011536593.3:c.2975T>C	XP_011534895.1:p.Leu992Pro
XM_011536594.1:c.2870T>C	XP_011534896.1:p.Leu957Pro
XM_011536595.1:c.2771T>C	XP_011534897.1:p.Leu924Pro
XM_011536596.1:c.2762T>C	XP_011534898.1:p.Leu921Pro
XM_011536597.1:c.2762T>C	XP_011534899.1:p.Leu921Pro
XM_011536598.1:c.1373T>C	XP_011534900.1:p.Leu458Pro
XM_017021116.1:c.2771T>C	XP_016876605.1:p.Leu924Pro
XM_017021117.1:c.2762T>C	XP_016876606.1:p.Leu921Pro
XM_017021119.1:c.2015T>C	XP_016876608.1:p.Leu672Pro
XR_001750204.2:n.3818T>C
XR_001750205.2:n.3818T>C
XR_001750206.2:n.3818T>C
XR_245676.2:n.3353T>C
XR_245676.4:n.3713T>C
XR_943410.1:n.3458T>C
XR_943411.1:n.3458T>C
XR_943412.1:n.3458T>C
XR_943413.1:n.3458T>C
XR_943413.3:n.3818T>C