Canonical Allele Identifier: CA175032606

Gene: PLPBP

Linked Data

• ClinVar Variation Id: 2018340
• ClinVar RCV Id: RCV002830207
• dbSNP Id: rs202002761
• gnomAD v2: 8-37623076-G-C
• gnomAD v3: 8-37765558-G-C
• gnomAD v4: 8-37765558-G-C
• MyVariant Identifiers: chr8:g.37623076G>C (hg19) ; chr8:g.37765558G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765558G>C , CM000670.2:g.37765558G>C	GRCh38
NC_000008.10:g.37623076G>C , CM000670.1:g.37623076G>C	GRCh37
NC_000008.9:g.37742234G>C	NCBI36
NG_053030.1:g.8806G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.132G>C MANE Select	ENSP00000333551.3:p.Ala44=
ENST00000328195.7:c.132G>C	ENSP00000333551.3:p.Ala44=
ENST00000518036.5:c.132G>C	ENSP00000428005.1:p.Ala44=
ENST00000520073.5:n.197G>C
ENST00000523187.5:c.-25G>C	ENSP00000427886.1:n.-25G>C
ENST00000523358.5:c.132G>C	ENSP00000427778.1:p.Ala44=
ENST00000523994.1:n.137G>C
NM_007198.3:c.132G>C	NP_009129.1:p.Ala44=
NM_001349346.1:c.132G>C	NP_001336275.1:p.Ala44=
NM_001349347.1:c.132G>C	NP_001336276.1:p.Ala44=
NM_001349348.1:c.-25G>C	NP_001336277.1:n.-25G>C
NM_001349349.1:c.237G>C	NP_001336278.1:p.Ala79=
NM_007198.4:c.132G>C MANE Select	NP_009129.1:p.Ala44=
NM_001349346.2:c.132G>C	NP_001336275.1:p.Ala44=
NM_001349347.2:c.132G>C	NP_001336276.1:p.Ala44=
NM_001349348.2:c.-25G>C	NP_001336277.1:n.-25G>C