Canonical Allele Identifier: CA1777236929
Gene: PLPBP HGNC NCBI

Linked Data

dbSNP Id: rs1563323714

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765703C>T , CM000670.2:g.37765703C>T GRCh38
NC_000008.10:g.37623221C>T , CM000670.1:g.37623221C>T GRCh37
NC_000008.9:g.37742379C>T NCBI36
NG_053030.1:g.8951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.208-8C>T MANE Select ENSP00000333551.3:n.208-8C>T
ENST00000328195.7:c.208-8C>T ENSP00000333551.3:n.208-8C>T
ENST00000518036.5:c.*52C>T ENSP00000428005.1:n.*52C>T
ENST00000520073.5:n.273-8C>T
ENST00000523187.5:c.52-8C>T ENSP00000427886.1:n.52-8C>T
ENST00000523358.5:c.208-8C>T ENSP00000427778.1:n.208-8C>T
ENST00000523994.1:n.213-8C>T
NM_007198.3:c.208-8C>T NP_009129.1:n.208-8C>T
NM_001349346.1:c.208-8C>T NP_001336275.1:n.208-8C>T
NM_001349347.1:c.208-14C>T NP_001336276.1:n.208-14C>T
NM_001349348.1:c.52-8C>T NP_001336277.1:n.52-8C>T
NM_001349349.1:c.313-8C>T NP_001336278.1:n.313-8C>T
NM_007198.4:c.208-8C>T MANE Select NP_009129.1:n.208-8C>T
NM_001349346.2:c.208-8C>T NP_001336275.1:n.208-8C>T
NM_001349347.2:c.208-14C>T NP_001336276.1:n.208-14C>T
NM_001349348.2:c.52-8C>T NP_001336277.1:n.52-8C>T