Canonical Allele Identifier: CA279862

Gene: PPP1R13B

Linked Data

• ClinVar Variation Id: 208406
• ClinVar RCV Id: RCV000202339
• dbSNP Id: rs863223358
• gnomAD v2: 14-104251194-C-T
• gnomAD v4: 14-103784857-C-T
• MyVariant Identifiers: chr14:g.104251194C>T (hg19) ; chr14:g.103784857C>T (hg38)
• PubMed: PMID:26508570

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.103784857C>T , CM000676.2:g.103784857C>T	GRCh38
NC_000014.8:g.104251194C>T , CM000676.1:g.104251194C>T	GRCh37
NC_000014.7:g.103320947C>T	NCBI36
NG_046915.1:g.69111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000202556.14:c.215G>A MANE Select	ENSP00000202556.9:p.Arg72Gln
ENST00000647748.1:c.176G>A	ENSP00000497343.1:p.Arg59Gln
ENST00000202556.13:c.215G>A	ENSP00000202556.9:p.Arg72Gln
ENST00000553739.2:c.302G>A	ENSP00000450734.1:p.Arg101Gln
ENST00000554106.5:n.178-6036G>A
ENST00000554136.1:n.470G>A
ENST00000555734.5:c.206G>A	ENSP00000452376.1:p.Arg69Gln
ENST00000556325.1:n.35-44794G>A
ENST00000557082.5:c.212G>A	ENSP00000451396.1:p.Arg71Gln
NM_015316.2:c.215G>A	NP_056131.2:p.Arg72Gln
XM_005267487.3:c.419G>A	XP_005267544.1:p.Arg140Gln
XM_011536592.1:c.419G>A	XP_011534894.1:p.Arg140Gln
XM_011536593.1:c.419G>A	XP_011534895.1:p.Arg140Gln
XM_011536594.1:c.419G>A	XP_011534896.1:p.Arg140Gln
XM_011536595.1:c.215G>A	XP_011534897.1:p.Arg72Gln
XM_011536596.1:c.206G>A	XP_011534898.1:p.Arg69Gln
XM_011536597.1:c.206G>A	XP_011534899.1:p.Arg69Gln
XR_245676.2:n.902G>A
XR_943410.1:n.902G>A
XR_943411.1:n.902G>A
XR_943412.1:n.902G>A
XR_943413.1:n.902G>A
XM_005267487.5:c.419G>A	XP_005267544.1:p.Arg140Gln
XM_011536593.3:c.419G>A	XP_011534895.1:p.Arg140Gln
XM_017021116.1:c.215G>A	XP_016876605.1:p.Arg72Gln
XM_017021117.1:c.206G>A	XP_016876606.1:p.Arg69Gln
XR_001750204.2:n.1262G>A
XR_001750205.2:n.1262G>A
XR_001750206.2:n.1262G>A
XR_245676.4:n.1262G>A
XR_943413.3:n.1262G>A
NM_015316.3:c.215G>A MANE Select	NP_056131.2:p.Arg72Gln