Canonical Allele Identifier: CA460359021

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765737-A-C
• MyVariant Identifiers: chr8:g.37623255A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765737A>C , CM000670.2:g.37765737A>C	GRCh38
NC_000008.10:g.37623255A>C , CM000670.1:g.37623255A>C	GRCh37
NC_000008.9:g.37742413A>C	NCBI36
NG_053030.1:g.8985A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.234A>C MANE Select	ENSP00000333551.3:p.Ser78=
ENST00000328195.7:c.234A>C	ENSP00000333551.3:p.Ser78=
ENST00000518036.5:c.*86A>C	ENSP00000428005.1:n.*86A>C
ENST00000520073.5:n.299A>C
ENST00000523187.5:c.78A>C	ENSP00000427886.1:p.Ser26=
ENST00000523358.5:c.234A>C	ENSP00000427778.1:p.Ser78=
ENST00000523994.1:n.239A>C
NM_007198.3:c.234A>C	NP_009129.1:p.Ser78=
NM_001349346.1:c.234A>C	NP_001336275.1:p.Ser78=
NM_001349347.1:c.228A>C	NP_001336276.1:p.Ser76=
NM_001349348.1:c.78A>C	NP_001336277.1:p.Ser26=
NM_001349349.1:c.339A>C	NP_001336278.1:p.Ser113=
NM_007198.4:c.234A>C MANE Select	NP_009129.1:p.Ser78=
NM_001349346.2:c.234A>C	NP_001336275.1:p.Ser78=
NM_001349347.2:c.228A>C	NP_001336276.1:p.Ser76=
NM_001349348.2:c.78A>C	NP_001336277.1:p.Ser26=