Canonical Allele Identifier: CA370667676

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630278C>G (hg19) ; chr8:g.37772760C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772760C>G , CM000670.2:g.37772760C>G	GRCh38
NC_000008.10:g.37630278C>G , CM000670.1:g.37630278C>G	GRCh37
NC_000008.9:g.37749436C>G	NCBI36
NG_053030.1:g.16008C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.325C>G MANE Select	ENSP00000333551.3:p.Pro109Ala
ENST00000328195.7:c.325C>G	ENSP00000333551.3:p.Pro109Ala
ENST00000518036.5:c.*177C>G	ENSP00000428005.1:n.*177C>G
ENST00000521631.1:n.8C>G
ENST00000523187.5:c.169C>G	ENSP00000427886.1:p.Pro57Ala
ENST00000523358.5:c.325C>G	ENSP00000427778.1:p.Pro109Ala
ENST00000523521.1:c.82C>G	ENSP00000429425.1:p.Pro28Ala
NM_007198.3:c.325C>G	NP_009129.1:p.Pro109Ala
NM_001349346.1:c.325C>G	NP_001336275.1:p.Pro109Ala
NM_001349347.1:c.319C>G	NP_001336276.1:p.Pro107Ala
NM_001349348.1:c.169C>G	NP_001336277.1:p.Pro57Ala
NM_007198.4:c.325C>G MANE Select	NP_009129.1:p.Pro109Ala
NM_001349346.2:c.325C>G	NP_001336275.1:p.Pro109Ala
NM_001349347.2:c.319C>G	NP_001336276.1:p.Pro107Ala
NM_001349348.2:c.169C>G	NP_001336277.1:p.Pro57Ala