Canonical Allele Identifier: CA1777240036
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37772772A= , CM000670.2:g.37772772A= GRCh38
NC_000008.10:g.37630290A= , CM000670.1:g.37630290A= GRCh37
NC_000008.9:g.37749448A= NCBI36
NG_053030.1:g.16020A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.337A= MANE Select ENSP00000333551.3:p.Met113=
ENST00000328195.7:c.337A= ENSP00000333551.3:p.Met113=
ENST00000518036.5:c.*189A= ENSP00000428005.1:n.*189A=
ENST00000521631.1:n.20A=
ENST00000523187.5:c.181A= ENSP00000427886.1:p.Met61=
ENST00000523358.5:c.337A= ENSP00000427778.1:p.Met113=
ENST00000523521.1:c.94A= ENSP00000429425.1:p.Met32=
NM_007198.3:c.337A= NP_009129.1:p.Met113=
NM_001349346.1:c.337A= NP_001336275.1:p.Met113=
NM_001349347.1:c.331A= NP_001336276.1:p.Met111=
NM_001349348.1:c.181A= NP_001336277.1:p.Met61=
NM_007198.4:c.337A= MANE Select NP_009129.1:p.Met113=
NM_001349346.2:c.337A= NP_001336275.1:p.Met113=
NM_001349347.2:c.331A= NP_001336276.1:p.Met111=
NM_001349348.2:c.181A= NP_001336277.1:p.Met61=