Canonical Allele Identifier: CA4711211

Gene: PLPBP

Linked Data

• dbSNP Id: rs762855564
• ExAC: 8:37630275 G / C
• gnomAD v2: 8-37630275-G-C
• gnomAD v4: 8-37772757-G-C
• MyVariant Identifiers: chr8:g.37630275G>C (hg19) ; chr8:g.37772757G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772757G>C , CM000670.2:g.37772757G>C	GRCh38
NC_000008.10:g.37630275G>C , CM000670.1:g.37630275G>C	GRCh37
NC_000008.9:g.37749433G>C	NCBI36
NG_053030.1:g.16005G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.322G>C MANE Select	ENSP00000333551.3:p.Val108Leu
ENST00000328195.7:c.322G>C	ENSP00000333551.3:p.Val108Leu
ENST00000518036.5:c.*174G>C	ENSP00000428005.1:n.*174G>C
ENST00000521631.1:n.5G>C
ENST00000523187.5:c.166G>C	ENSP00000427886.1:p.Val56Leu
ENST00000523358.5:c.322G>C	ENSP00000427778.1:p.Val108Leu
ENST00000523521.1:c.79G>C	ENSP00000429425.1:p.Val27Leu
NM_007198.3:c.322G>C	NP_009129.1:p.Val108Leu
NM_001349346.1:c.322G>C	NP_001336275.1:p.Val108Leu
NM_001349347.1:c.316G>C	NP_001336276.1:p.Val106Leu
NM_001349348.1:c.166G>C	NP_001336277.1:p.Val56Leu
NM_007198.4:c.322G>C MANE Select	NP_009129.1:p.Val108Leu
NM_001349346.2:c.322G>C	NP_001336275.1:p.Val108Leu
NM_001349347.2:c.316G>C	NP_001336276.1:p.Val106Leu
NM_001349348.2:c.166G>C	NP_001336277.1:p.Val56Leu