Canonical Allele Identifier: CA460359026

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623261C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765743C>G , CM000670.2:g.37765743C>G	GRCh38
NC_000008.10:g.37623261C>G , CM000670.1:g.37623261C>G	GRCh37
NC_000008.9:g.37742419C>G	NCBI36
NG_053030.1:g.8991C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.240C>G MANE Select	ENSP00000333551.3:p.Pro80=
ENST00000328195.7:c.240C>G	ENSP00000333551.3:p.Pro80=
ENST00000518036.5:c.*92C>G	ENSP00000428005.1:n.*92C>G
ENST00000520073.5:n.305C>G
ENST00000523187.5:c.84C>G	ENSP00000427886.1:p.Pro28=
ENST00000523358.5:c.240C>G	ENSP00000427778.1:p.Pro80=
ENST00000523994.1:n.245C>G
NM_007198.3:c.240C>G	NP_009129.1:p.Pro80=
NM_001349346.1:c.240C>G	NP_001336275.1:p.Pro80=
NM_001349347.1:c.234C>G	NP_001336276.1:p.Pro78=
NM_001349348.1:c.84C>G	NP_001336277.1:p.Pro28=
NM_001349349.1:c.345C>G	NP_001336278.1:p.Pro115=
NM_007198.4:c.240C>G MANE Select	NP_009129.1:p.Pro80=
NM_001349346.2:c.240C>G	NP_001336275.1:p.Pro80=
NM_001349347.2:c.234C>G	NP_001336276.1:p.Pro78=
NM_001349348.2:c.84C>G	NP_001336277.1:p.Pro28=