Canonical Allele Identifier: CA460359020

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623252A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765734A>T , CM000670.2:g.37765734A>T	GRCh38
NC_000008.10:g.37623252A>T , CM000670.1:g.37623252A>T	GRCh37
NC_000008.9:g.37742410A>T	NCBI36
NG_053030.1:g.8982A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.231A>T MANE Select	ENSP00000333551.3:p.Ala77=
ENST00000328195.7:c.231A>T	ENSP00000333551.3:p.Ala77=
ENST00000518036.5:c.*83A>T	ENSP00000428005.1:n.*83A>T
ENST00000520073.5:n.296A>T
ENST00000523187.5:c.75A>T	ENSP00000427886.1:p.Ala25=
ENST00000523358.5:c.231A>T	ENSP00000427778.1:p.Ala77=
ENST00000523994.1:n.236A>T
NM_007198.3:c.231A>T	NP_009129.1:p.Ala77=
NM_001349346.1:c.231A>T	NP_001336275.1:p.Ala77=
NM_001349347.1:c.225A>T	NP_001336276.1:p.Ala75=
NM_001349348.1:c.75A>T	NP_001336277.1:p.Ala25=
NM_001349349.1:c.336A>T	NP_001336278.1:p.Ala112=
NM_007198.4:c.231A>T MANE Select	NP_009129.1:p.Ala77=
NM_001349346.2:c.231A>T	NP_001336275.1:p.Ala77=
NM_001349347.2:c.225A>T	NP_001336276.1:p.Ala75=
NM_001349348.2:c.75A>T	NP_001336277.1:p.Ala25=