Canonical Allele Identifier: CA370666868

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623258T>G (hg19) ; chr8:g.37765740T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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