Canonical Allele Identifier: CA370666792

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 2112606
• ClinVar RCV Id: RCV003026904
• dbSNP Id: rs767795673
• gnomAD v4: 8-37765634-G-C
• MyVariant Identifiers: chr8:g.37623152G>C (hg19) ; chr8:g.37765634G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765634G>C , CM000670.2:g.37765634G>C	GRCh38
NC_000008.10:g.37623152G>C , CM000670.1:g.37623152G>C	GRCh37
NC_000008.9:g.37742310G>C	NCBI36
NG_053030.1:g.8882G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.207+1G>C MANE Select	ENSP00000333551.3:n.207+1G>C
ENST00000328195.7:c.207+1G>C	ENSP00000333551.3:n.207+1G>C
ENST00000518036.5:c.208G>C	ENSP00000428005.1:p.Val70Leu
ENST00000520073.5:n.272+1G>C
ENST00000523187.5:c.51+1G>C	ENSP00000427886.1:n.51+1G>C
ENST00000523358.5:c.207+1G>C	ENSP00000427778.1:n.207+1G>C
ENST00000523994.1:n.212+1G>C
NM_007198.3:c.207+1G>C	NP_009129.1:n.207+1G>C
NM_001349346.1:c.207+1G>C	NP_001336275.1:n.207+1G>C
NM_001349347.1:c.207+1G>C	NP_001336276.1:n.207+1G>C
NM_001349348.1:c.51+1G>C	NP_001336277.1:n.51+1G>C
NM_001349349.1:c.312+1G>C	NP_001336278.1:n.312+1G>C
NM_007198.4:c.207+1G>C MANE Select	NP_009129.1:n.207+1G>C
NM_001349346.2:c.207+1G>C	NP_001336275.1:n.207+1G>C
NM_001349347.2:c.207+1G>C	NP_001336276.1:n.207+1G>C
NM_001349348.2:c.51+1G>C	NP_001336277.1:n.51+1G>C