Canonical Allele Identifier: CA460359160

Gene: PLPBP

Linked Data

• dbSNP Id: rs1803811580
• MyVariant Identifiers: chr8:g.37630385G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772867G>A , CM000670.2:g.37772867G>A	GRCh38
NC_000008.10:g.37630385G>A , CM000670.1:g.37630385G>A	GRCh37
NC_000008.9:g.37749543G>A	NCBI36
NG_053030.1:g.16115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.432G>A MANE Select	ENSP00000333551.3:p.Gln144=
ENST00000328195.7:c.432G>A	ENSP00000333551.3:p.Gln144=
ENST00000521631.1:n.115G>A
ENST00000523187.5:c.276G>A	ENSP00000427886.1:p.Gln92=
ENST00000523358.5:c.432G>A	ENSP00000427778.1:p.Gln144=
ENST00000523521.1:c.189G>A	ENSP00000429425.1:p.Gln63=
NM_007198.3:c.432G>A	NP_009129.1:p.Gln144=
NM_001349346.1:c.432G>A	NP_001336275.1:p.Gln144=
NM_001349347.1:c.426G>A	NP_001336276.1:p.Gln142=
NM_001349348.1:c.276G>A	NP_001336277.1:p.Gln92=
NM_007198.4:c.432G>A MANE Select	NP_009129.1:p.Gln144=
NM_001349346.2:c.432G>A	NP_001336275.1:p.Gln144=
NM_001349347.2:c.426G>A	NP_001336276.1:p.Gln142=
NM_001349348.2:c.276G>A	NP_001336277.1:p.Gln92=