Canonical Allele Identifier: CA267256385

Gene: PPP1R13B

Linked Data

• dbSNP Id: rs560755180
• gnomAD v3: 14-103753670-C-T
• gnomAD v4: 14-103753670-C-T
• MyVariant Identifiers: chr14:g.104220007C>T (hg19) ; chr14:g.103753670C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103753670C>T , CM000676.2:g.103753670C>T	GRCh38
NC_000014.8:g.104220007C>T , CM000676.1:g.104220007C>T	GRCh37
NC_000014.7:g.103289760C>T	NCBI36
NG_046915.1:g.100298G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202556.14:c.631+400G>A MANE Select	ENSP00000202556.9:n.631+400G>A
ENST00000647748.1:c.586+400G>A	ENSP00000497343.1:n.586+400G>A
ENST00000202556.13:c.631+400G>A	ENSP00000202556.9:n.631+400G>A
ENST00000556325.1:n.35-13607G>A
ENST00000557082.5:c.*876+400G>A	ENSP00000451396.1:n.*876+400G>A
NM_015316.2:c.631+400G>A	NP_056131.2:n.631+400G>A
XM_005267487.3:c.835+400G>A	XP_005267544.1:n.835+400G>A
XM_011536592.1:c.835+400G>A	XP_011534894.1:n.835+400G>A
XM_011536593.1:c.835+400G>A	XP_011534895.1:n.835+400G>A
XM_011536594.1:c.835+400G>A	XP_011534896.1:n.835+400G>A
XM_011536595.1:c.631+400G>A	XP_011534897.1:n.631+400G>A
XM_011536596.1:c.622+400G>A	XP_011534898.1:n.622+400G>A
XM_011536597.1:c.622+400G>A	XP_011534899.1:n.622+400G>A
XR_245676.2:n.1318+400G>A
XR_943410.1:n.1318+400G>A
XR_943411.1:n.1318+400G>A
XR_943412.1:n.1318+400G>A
XR_943413.1:n.1318+400G>A
XM_005267487.5:c.835+400G>A	XP_005267544.1:n.835+400G>A
XM_011536593.3:c.835+400G>A	XP_011534895.1:n.835+400G>A
XM_017021116.1:c.631+400G>A	XP_016876605.1:n.631+400G>A
XM_017021117.1:c.622+400G>A	XP_016876606.1:n.622+400G>A
XR_001750204.2:n.1678+400G>A
XR_001750205.2:n.1678+400G>A
XR_001750206.2:n.1678+400G>A
XR_245676.4:n.1678+400G>A
XR_943413.3:n.1678+400G>A
NM_015316.3:c.631+400G>A MANE Select	NP_056131.2:n.631+400G>A