Canonical Allele Identifier: CA370666759

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 1934485
• ClinVar RCV Id: RCV002638735
• dbSNP Id: rs1231011598
• gnomAD v3: 8-37765620-T-C
• gnomAD v4: 8-37765620-T-C
• MyVariant Identifiers: chr8:g.37623138T>C (hg19) ; chr8:g.37765620T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765620T>C , CM000670.2:g.37765620T>C	GRCh38
NC_000008.10:g.37623138T>C , CM000670.1:g.37623138T>C	GRCh37
NC_000008.9:g.37742296T>C	NCBI36
NG_053030.1:g.8868T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.194T>C MANE Select	ENSP00000333551.3:p.Phe65Ser
ENST00000328195.7:c.194T>C	ENSP00000333551.3:p.Phe65Ser
ENST00000518036.5:c.194T>C	ENSP00000428005.1:p.Phe65Ser
ENST00000520073.5:n.259T>C
ENST00000523187.5:c.38T>C	ENSP00000427886.1:p.Phe13Ser
ENST00000523358.5:c.194T>C	ENSP00000427778.1:p.Phe65Ser
ENST00000523994.1:n.199T>C
NM_007198.3:c.194T>C	NP_009129.1:p.Phe65Ser
NM_001349346.1:c.194T>C	NP_001336275.1:p.Phe65Ser
NM_001349347.1:c.194T>C	NP_001336276.1:p.Phe65Ser
NM_001349348.1:c.38T>C	NP_001336277.1:p.Phe13Ser
NM_001349349.1:c.299T>C	NP_001336278.1:p.Phe100Ser
NM_007198.4:c.194T>C MANE Select	NP_009129.1:p.Phe65Ser
NM_001349346.2:c.194T>C	NP_001336275.1:p.Phe65Ser
NM_001349347.2:c.194T>C	NP_001336276.1:p.Phe65Ser
NM_001349348.2:c.38T>C	NP_001336277.1:p.Phe13Ser