Canonical Allele Identifier: CA370667756
Gene: PLPBP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37772797A>T , CM000670.2:g.37772797A>T GRCh38
NC_000008.10:g.37630315A>T , CM000670.1:g.37630315A>T GRCh37
NC_000008.9:g.37749473A>T NCBI36
NG_053030.1:g.16045A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.362A>T MANE Select ENSP00000333551.3:p.Lys121Met
ENST00000328195.7:c.362A>T ENSP00000333551.3:p.Lys121Met
ENST00000518036.5:c.*214A>T ENSP00000428005.1:n.*214A>T
ENST00000521631.1:n.45A>T
ENST00000523187.5:c.206A>T ENSP00000427886.1:p.Lys69Met
ENST00000523358.5:c.362A>T ENSP00000427778.1:p.Lys121Met
ENST00000523521.1:c.119A>T ENSP00000429425.1:p.Lys40Met
NM_007198.3:c.362A>T NP_009129.1:p.Lys121Met
NM_001349346.1:c.362A>T NP_001336275.1:p.Lys121Met
NM_001349347.1:c.356A>T NP_001336276.1:p.Lys119Met
NM_001349348.1:c.206A>T NP_001336277.1:p.Lys69Met
NM_007198.4:c.362A>T MANE Select NP_009129.1:p.Lys121Met
NM_001349346.2:c.362A>T NP_001336275.1:p.Lys121Met
NM_001349347.2:c.356A>T NP_001336276.1:p.Lys119Met
NM_001349348.2:c.206A>T NP_001336277.1:p.Lys69Met