Canonical Allele Identifier: CA4711145

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 1986115
• ClinVar RCV Id: RCV002785946
• dbSNP Id: rs372146404
• ExAC: 8:37623109 C / T
• gnomAD v2: 8-37623109-C-T
• gnomAD v3: 8-37765591-C-T
• gnomAD v4: 8-37765591-C-T
• MyVariant Identifiers: chr8:g.37623109C>T (hg19) ; chr8:g.37765591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765591C>T , CM000670.2:g.37765591C>T	GRCh38
NC_000008.10:g.37623109C>T , CM000670.1:g.37623109C>T	GRCh37
NC_000008.9:g.37742267C>T	NCBI36
NG_053030.1:g.8839C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.165C>T MANE Select	ENSP00000333551.3:p.Ile55=
ENST00000328195.7:c.165C>T	ENSP00000333551.3:p.Ile55=
ENST00000518036.5:c.165C>T	ENSP00000428005.1:p.Ile55=
ENST00000520073.5:n.230C>T
ENST00000523187.5:c.9C>T	ENSP00000427886.1:p.Ile3=
ENST00000523358.5:c.165C>T	ENSP00000427778.1:p.Ile55=
ENST00000523994.1:n.170C>T
NM_007198.3:c.165C>T	NP_009129.1:p.Ile55=
NM_001349346.1:c.165C>T	NP_001336275.1:p.Ile55=
NM_001349347.1:c.165C>T	NP_001336276.1:p.Ile55=
NM_001349348.1:c.9C>T	NP_001336277.1:p.Ile3=
NM_001349349.1:c.270C>T	NP_001336278.1:p.Ile90=
NM_007198.4:c.165C>T MANE Select	NP_009129.1:p.Ile55=
NM_001349346.2:c.165C>T	NP_001336275.1:p.Ile55=
NM_001349347.2:c.165C>T	NP_001336276.1:p.Ile55=
NM_001349348.2:c.9C>T	NP_001336277.1:p.Ile3=