Canonical Allele Identifier: CA370666867

Gene: PLPBP

Linked Data

• dbSNP Id: rs1465896579
• gnomAD v2: 8-37623258-T-A
• gnomAD v4: 8-37765740-T-A
• MyVariant Identifiers: chr8:g.37623258T>A (hg19) ; chr8:g.37765740T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765740T>A , CM000670.2:g.37765740T>A	GRCh38
NC_000008.10:g.37623258T>A , CM000670.1:g.37623258T>A	GRCh37
NC_000008.9:g.37742416T>A	NCBI36
NG_053030.1:g.8988T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.237T>A MANE Select	ENSP00000333551.3:p.Asn79Lys
ENST00000328195.7:c.237T>A	ENSP00000333551.3:p.Asn79Lys
ENST00000518036.5:c.*89T>A	ENSP00000428005.1:n.*89T>A
ENST00000520073.5:n.302T>A
ENST00000523187.5:c.81T>A	ENSP00000427886.1:p.Asn27Lys
ENST00000523358.5:c.237T>A	ENSP00000427778.1:p.Asn79Lys
ENST00000523994.1:n.242T>A
NM_007198.3:c.237T>A	NP_009129.1:p.Asn79Lys
NM_001349346.1:c.237T>A	NP_001336275.1:p.Asn79Lys
NM_001349347.1:c.231T>A	NP_001336276.1:p.Asn77Lys
NM_001349348.1:c.81T>A	NP_001336277.1:p.Asn27Lys
NM_001349349.1:c.342T>A	NP_001336278.1:p.Asn114Lys
NM_007198.4:c.237T>A MANE Select	NP_009129.1:p.Asn79Lys
NM_001349346.2:c.237T>A	NP_001336275.1:p.Asn79Lys
NM_001349347.2:c.231T>A	NP_001336276.1:p.Asn77Lys
NM_001349348.2:c.81T>A	NP_001336277.1:p.Asn27Lys