Canonical Allele Identifier: CA4711164

Gene: PLPBP

Linked Data

• dbSNP Id: rs770126447
• ExAC: 8:37623256 A / G
• gnomAD v2: 8-37623256-A-G
• gnomAD v4: 8-37765738-A-G
• MyVariant Identifiers: chr8:g.37623256A>G (hg19) ; chr8:g.37765738A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765738A>G , CM000670.2:g.37765738A>G	GRCh38
NC_000008.10:g.37623256A>G , CM000670.1:g.37623256A>G	GRCh37
NC_000008.9:g.37742414A>G	NCBI36
NG_053030.1:g.8986A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.235A>G MANE Select	ENSP00000333551.3:p.Asn79Asp
ENST00000328195.7:c.235A>G	ENSP00000333551.3:p.Asn79Asp
ENST00000518036.5:c.*87A>G	ENSP00000428005.1:n.*87A>G
ENST00000520073.5:n.300A>G
ENST00000523187.5:c.79A>G	ENSP00000427886.1:p.Asn27Asp
ENST00000523358.5:c.235A>G	ENSP00000427778.1:p.Asn79Asp
ENST00000523994.1:n.240A>G
NM_007198.3:c.235A>G	NP_009129.1:p.Asn79Asp
NM_001349346.1:c.235A>G	NP_001336275.1:p.Asn79Asp
NM_001349347.1:c.229A>G	NP_001336276.1:p.Asn77Asp
NM_001349348.1:c.79A>G	NP_001336277.1:p.Asn27Asp
NM_001349349.1:c.340A>G	NP_001336278.1:p.Asn114Asp
NM_007198.4:c.235A>G MANE Select	NP_009129.1:p.Asn79Asp
NM_001349346.2:c.235A>G	NP_001336275.1:p.Asn79Asp
NM_001349347.2:c.229A>G	NP_001336276.1:p.Asn77Asp
NM_001349348.2:c.79A>G	NP_001336277.1:p.Asn27Asp