Canonical Allele Identifier: CA370666758

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623137T>G (hg19) ; chr8:g.37765619T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765619T>G , CM000670.2:g.37765619T>G	GRCh38
NC_000008.10:g.37623137T>G , CM000670.1:g.37623137T>G	GRCh37
NC_000008.9:g.37742295T>G	NCBI36
NG_053030.1:g.8867T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.193T>G MANE Select	ENSP00000333551.3:p.Phe65Val
ENST00000328195.7:c.193T>G	ENSP00000333551.3:p.Phe65Val
ENST00000518036.5:c.193T>G	ENSP00000428005.1:p.Phe65Val
ENST00000520073.5:n.258T>G
ENST00000523187.5:c.37T>G	ENSP00000427886.1:p.Phe13Val
ENST00000523358.5:c.193T>G	ENSP00000427778.1:p.Phe65Val
ENST00000523994.1:n.198T>G
NM_007198.3:c.193T>G	NP_009129.1:p.Phe65Val
NM_001349346.1:c.193T>G	NP_001336275.1:p.Phe65Val
NM_001349347.1:c.193T>G	NP_001336276.1:p.Phe65Val
NM_001349348.1:c.37T>G	NP_001336277.1:p.Phe13Val
NM_001349349.1:c.298T>G	NP_001336278.1:p.Phe100Val
NM_007198.4:c.193T>G MANE Select	NP_009129.1:p.Phe65Val
NM_001349346.2:c.193T>G	NP_001336275.1:p.Phe65Val
NM_001349347.2:c.193T>G	NP_001336276.1:p.Phe65Val
NM_001349348.2:c.37T>G	NP_001336277.1:p.Phe13Val