Canonical Allele Identifier: CA370666850

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623249A>T (hg19) ; chr8:g.37765731A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765731A>T , CM000670.2:g.37765731A>T	GRCh38
NC_000008.10:g.37623249A>T , CM000670.1:g.37623249A>T	GRCh37
NC_000008.9:g.37742407A>T	NCBI36
NG_053030.1:g.8979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.228A>T MANE Select	ENSP00000333551.3:p.Lys76Asn
ENST00000328195.7:c.228A>T	ENSP00000333551.3:p.Lys76Asn
ENST00000518036.5:c.*80A>T	ENSP00000428005.1:n.*80A>T
ENST00000520073.5:n.293A>T
ENST00000523187.5:c.72A>T	ENSP00000427886.1:p.Lys24Asn
ENST00000523358.5:c.228A>T	ENSP00000427778.1:p.Lys76Asn
ENST00000523994.1:n.233A>T
NM_007198.3:c.228A>T	NP_009129.1:p.Lys76Asn
NM_001349346.1:c.228A>T	NP_001336275.1:p.Lys76Asn
NM_001349347.1:c.222A>T	NP_001336276.1:p.Lys74Asn
NM_001349348.1:c.72A>T	NP_001336277.1:p.Lys24Asn
NM_001349349.1:c.333A>T	NP_001336278.1:p.Lys111Asn
NM_007198.4:c.228A>T MANE Select	NP_009129.1:p.Lys76Asn
NM_001349346.2:c.228A>T	NP_001336275.1:p.Lys76Asn
NM_001349347.2:c.222A>T	NP_001336276.1:p.Lys74Asn
NM_001349348.2:c.72A>T	NP_001336277.1:p.Lys24Asn