Canonical Allele Identifier: CA370666541

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623068C>G (hg19) ; chr8:g.37765550C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765550C>G , CM000670.2:g.37765550C>G	GRCh38
NC_000008.10:g.37623068C>G , CM000670.1:g.37623068C>G	GRCh37
NC_000008.9:g.37742226C>G	NCBI36
NG_053030.1:g.8798C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.124C>G MANE Select	ENSP00000333551.3:p.Leu42Val
ENST00000328195.7:c.124C>G	ENSP00000333551.3:p.Leu42Val
ENST00000518036.5:c.124C>G	ENSP00000428005.1:p.Leu42Val
ENST00000520073.5:n.189C>G
ENST00000523187.5:c.-33C>G	ENSP00000427886.1:n.-33C>G
ENST00000523358.5:c.124C>G	ENSP00000427778.1:p.Leu42Val
ENST00000523994.1:n.129C>G
NM_007198.3:c.124C>G	NP_009129.1:p.Leu42Val
NM_001349346.1:c.124C>G	NP_001336275.1:p.Leu42Val
NM_001349347.1:c.124C>G	NP_001336276.1:p.Leu42Val
NM_001349348.1:c.-33C>G	NP_001336277.1:n.-33C>G
NM_001349349.1:c.229C>G	NP_001336278.1:p.Leu77Val
NM_007198.4:c.124C>G MANE Select	NP_009129.1:p.Leu42Val
NM_001349346.2:c.124C>G	NP_001336275.1:p.Leu42Val
NM_001349347.2:c.124C>G	NP_001336276.1:p.Leu42Val
NM_001349348.2:c.-33C>G	NP_001336277.1:n.-33C>G