Canonical Allele Identifier: CA370666559

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623072T>G (hg19) ; chr8:g.37765554T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765554T>G , CM000670.2:g.37765554T>G	GRCh38
NC_000008.10:g.37623072T>G , CM000670.1:g.37623072T>G	GRCh37
NC_000008.9:g.37742230T>G	NCBI36
NG_053030.1:g.8802T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.128T>G MANE Select	ENSP00000333551.3:p.Val43Gly
ENST00000328195.7:c.128T>G	ENSP00000333551.3:p.Val43Gly
ENST00000518036.5:c.128T>G	ENSP00000428005.1:p.Val43Gly
ENST00000520073.5:n.193T>G
ENST00000523187.5:c.-29T>G	ENSP00000427886.1:n.-29T>G
ENST00000523358.5:c.128T>G	ENSP00000427778.1:p.Val43Gly
ENST00000523994.1:n.133T>G
NM_007198.3:c.128T>G	NP_009129.1:p.Val43Gly
NM_001349346.1:c.128T>G	NP_001336275.1:p.Val43Gly
NM_001349347.1:c.128T>G	NP_001336276.1:p.Val43Gly
NM_001349348.1:c.-29T>G	NP_001336277.1:n.-29T>G
NM_001349349.1:c.233T>G	NP_001336278.1:p.Val78Gly
NM_007198.4:c.128T>G MANE Select	NP_009129.1:p.Val43Gly
NM_001349346.2:c.128T>G	NP_001336275.1:p.Val43Gly
NM_001349347.2:c.128T>G	NP_001336276.1:p.Val43Gly
NM_001349348.2:c.-29T>G	NP_001336277.1:n.-29T>G