Canonical Allele Identifier: CA460359164

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630394C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772876C>G , CM000670.2:g.37772876C>G	GRCh38
NC_000008.10:g.37630394C>G , CM000670.1:g.37630394C>G	GRCh37
NC_000008.9:g.37749552C>G	NCBI36
NG_053030.1:g.16124C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.441C>G MANE Select	ENSP00000333551.3:p.Thr147=
ENST00000328195.7:c.441C>G	ENSP00000333551.3:p.Thr147=
ENST00000521631.1:n.124C>G
ENST00000523187.5:c.285C>G	ENSP00000427886.1:p.Thr95=
ENST00000523358.5:c.441C>G	ENSP00000427778.1:p.Thr147=
ENST00000523521.1:c.198C>G	ENSP00000429425.1:p.Thr66=
NM_007198.3:c.441C>G	NP_009129.1:p.Thr147=
NM_001349346.1:c.441C>G	NP_001336275.1:p.Thr147=
NM_001349347.1:c.435C>G	NP_001336276.1:p.Thr145=
NM_001349348.1:c.285C>G	NP_001336277.1:p.Thr95=
NM_007198.4:c.441C>G MANE Select	NP_009129.1:p.Thr147=
NM_001349346.2:c.441C>G	NP_001336275.1:p.Thr147=
NM_001349347.2:c.435C>G	NP_001336276.1:p.Thr145=
NM_001349348.2:c.285C>G	NP_001336277.1:p.Thr95=