Canonical Allele Identifier: CA4711231
Gene: PLPBP HGNC NCBI

Linked Data

dbSNP Id: rs769996605
gnomAD v2: 8-37630388-T-G
gnomAD v4: 8-37772870-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37772870T>G , CM000670.2:g.37772870T>G GRCh38
NC_000008.10:g.37630388T>G , CM000670.1:g.37630388T>G GRCh37
NC_000008.9:g.37749546T>G NCBI36
NG_053030.1:g.16118T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.435T>G MANE Select ENSP00000333551.3:p.Ile145Met
ENST00000328195.7:c.435T>G ENSP00000333551.3:p.Ile145Met
ENST00000521631.1:n.118T>G
ENST00000523187.5:c.279T>G ENSP00000427886.1:p.Ile93Met
ENST00000523358.5:c.435T>G ENSP00000427778.1:p.Ile145Met
ENST00000523521.1:c.192T>G ENSP00000429425.1:p.Ile64Met
NM_007198.3:c.435T>G NP_009129.1:p.Ile145Met
NM_001349346.1:c.435T>G NP_001336275.1:p.Ile145Met
NM_001349347.1:c.429T>G NP_001336276.1:p.Ile143Met
NM_001349348.1:c.279T>G NP_001336277.1:p.Ile93Met
NM_007198.4:c.435T>G MANE Select NP_009129.1:p.Ile145Met
NM_001349346.2:c.435T>G NP_001336275.1:p.Ile145Met
NM_001349347.2:c.429T>G NP_001336276.1:p.Ile143Met
NM_001349348.2:c.279T>G NP_001336277.1:p.Ile93Met