Canonical Allele Identifier: CA370667962

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37772888-G-C
• MyVariant Identifiers: chr8:g.37630406G>C (hg19) ; chr8:g.37772888G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772888G>C , CM000670.2:g.37772888G>C	GRCh38
NC_000008.10:g.37630406G>C , CM000670.1:g.37630406G>C	GRCh37
NC_000008.9:g.37749564G>C	NCBI36
NG_053030.1:g.16136G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.453G>C MANE Select	ENSP00000333551.3:p.Glu151Asp
ENST00000328195.7:c.453G>C	ENSP00000333551.3:p.Glu151Asp
ENST00000521631.1:n.136G>C
ENST00000523187.5:c.297G>C	ENSP00000427886.1:p.Glu99Asp
ENST00000523358.5:c.453G>C	ENSP00000427778.1:p.Glu151Asp
ENST00000523521.1:c.210G>C	ENSP00000429425.1:p.Glu70Asp
NM_007198.3:c.453G>C	NP_009129.1:p.Glu151Asp
NM_001349346.1:c.453G>C	NP_001336275.1:p.Glu151Asp
NM_001349347.1:c.447G>C	NP_001336276.1:p.Glu149Asp
NM_001349348.1:c.297G>C	NP_001336277.1:p.Glu99Asp
NM_007198.4:c.453G>C MANE Select	NP_009129.1:p.Glu151Asp
NM_001349346.2:c.453G>C	NP_001336275.1:p.Glu151Asp
NM_001349347.2:c.447G>C	NP_001336276.1:p.Glu149Asp
NM_001349348.2:c.297G>C	NP_001336277.1:p.Glu99Asp