Canonical Allele Identifier: CA175032794

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 2169902
• ClinVar RCV Id: RCV003088463
• dbSNP Id: rs373421233
• gnomAD v3: 8-37765643-C-T
• gnomAD v4: 8-37765643-C-T
• MyVariant Identifiers: chr8:g.37623161C>T (hg19) ; chr8:g.37765643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765643C>T , CM000670.2:g.37765643C>T	GRCh38
NC_000008.10:g.37623161C>T , CM000670.1:g.37623161C>T	GRCh37
NC_000008.9:g.37742319C>T	NCBI36
NG_053030.1:g.8891C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.207+10C>T MANE Select	ENSP00000333551.3:n.207+10C>T
ENST00000328195.7:c.207+10C>T	ENSP00000333551.3:n.207+10C>T
ENST00000518036.5:c.217C>T	ENSP00000428005.1:p.Leu73Phe
ENST00000520073.5:n.272+10C>T
ENST00000523187.5:c.51+10C>T	ENSP00000427886.1:n.51+10C>T
ENST00000523358.5:c.207+10C>T	ENSP00000427778.1:n.207+10C>T
ENST00000523994.1:n.212+10C>T
NM_007198.3:c.207+10C>T	NP_009129.1:n.207+10C>T
NM_001349346.1:c.207+10C>T	NP_001336275.1:n.207+10C>T
NM_001349347.1:c.207+10C>T	NP_001336276.1:n.207+10C>T
NM_001349348.1:c.51+10C>T	NP_001336277.1:n.51+10C>T
NM_001349349.1:c.312+10C>T	NP_001336278.1:n.312+10C>T
NM_007198.4:c.207+10C>T MANE Select	NP_009129.1:n.207+10C>T
NM_001349346.2:c.207+10C>T	NP_001336275.1:n.207+10C>T
NM_001349347.2:c.207+10C>T	NP_001336276.1:n.207+10C>T
NM_001349348.2:c.51+10C>T	NP_001336277.1:n.51+10C>T