Canonical Allele Identifier: CA370667796

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630333A>T (hg19) ; chr8:g.37772815A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772815A>T , CM000670.2:g.37772815A>T	GRCh38
NC_000008.10:g.37630333A>T , CM000670.1:g.37630333A>T	GRCh37
NC_000008.9:g.37749491A>T	NCBI36
NG_053030.1:g.16063A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.380A>T MANE Select	ENSP00000333551.3:p.Asn127Ile
ENST00000328195.7:c.380A>T	ENSP00000333551.3:p.Asn127Ile
ENST00000518036.5:c.*232A>T	ENSP00000428005.1:n.*232A>T
ENST00000521631.1:n.63A>T
ENST00000523187.5:c.224A>T	ENSP00000427886.1:p.Asn75Ile
ENST00000523358.5:c.380A>T	ENSP00000427778.1:p.Asn127Ile
ENST00000523521.1:c.137A>T	ENSP00000429425.1:p.Asn46Ile
NM_007198.3:c.380A>T	NP_009129.1:p.Asn127Ile
NM_001349346.1:c.380A>T	NP_001336275.1:p.Asn127Ile
NM_001349347.1:c.374A>T	NP_001336276.1:p.Asn125Ile
NM_001349348.1:c.224A>T	NP_001336277.1:p.Asn75Ile
NM_007198.4:c.380A>T MANE Select	NP_009129.1:p.Asn127Ile
NM_001349346.2:c.380A>T	NP_001336275.1:p.Asn127Ile
NM_001349347.2:c.374A>T	NP_001336276.1:p.Asn125Ile
NM_001349348.2:c.224A>T	NP_001336277.1:p.Asn75Ile