Canonical Allele Identifier: CA370667934

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630393C>A (hg19) ; chr8:g.37772875C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772875C>A , CM000670.2:g.37772875C>A	GRCh38
NC_000008.10:g.37630393C>A , CM000670.1:g.37630393C>A	GRCh37
NC_000008.9:g.37749551C>A	NCBI36
NG_053030.1:g.16123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.440C>A MANE Select	ENSP00000333551.3:p.Thr147Asn
ENST00000328195.7:c.440C>A	ENSP00000333551.3:p.Thr147Asn
ENST00000521631.1:n.123C>A
ENST00000523187.5:c.284C>A	ENSP00000427886.1:p.Thr95Asn
ENST00000523358.5:c.440C>A	ENSP00000427778.1:p.Thr147Asn
ENST00000523521.1:c.197C>A	ENSP00000429425.1:p.Thr66Asn
NM_007198.3:c.440C>A	NP_009129.1:p.Thr147Asn
NM_001349346.1:c.440C>A	NP_001336275.1:p.Thr147Asn
NM_001349347.1:c.434C>A	NP_001336276.1:p.Thr145Asn
NM_001349348.1:c.284C>A	NP_001336277.1:p.Thr95Asn
NM_007198.4:c.440C>A MANE Select	NP_009129.1:p.Thr147Asn
NM_001349346.2:c.440C>A	NP_001336275.1:p.Thr147Asn
NM_001349347.2:c.434C>A	NP_001336276.1:p.Thr145Asn
NM_001349348.2:c.284C>A	NP_001336277.1:p.Thr95Asn