Canonical Allele Identifier: CA370666874

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623260C>T (hg19) ; chr8:g.37765742C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765742C>T , CM000670.2:g.37765742C>T	GRCh38
NC_000008.10:g.37623260C>T , CM000670.1:g.37623260C>T	GRCh37
NC_000008.9:g.37742418C>T	NCBI36
NG_053030.1:g.8990C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.239C>T MANE Select	ENSP00000333551.3:p.Pro80Leu
ENST00000328195.7:c.239C>T	ENSP00000333551.3:p.Pro80Leu
ENST00000518036.5:c.*91C>T	ENSP00000428005.1:n.*91C>T
ENST00000520073.5:n.304C>T
ENST00000523187.5:c.83C>T	ENSP00000427886.1:p.Pro28Leu
ENST00000523358.5:c.239C>T	ENSP00000427778.1:p.Pro80Leu
ENST00000523994.1:n.244C>T
NM_007198.3:c.239C>T	NP_009129.1:p.Pro80Leu
NM_001349346.1:c.239C>T	NP_001336275.1:p.Pro80Leu
NM_001349347.1:c.233C>T	NP_001336276.1:p.Pro78Leu
NM_001349348.1:c.83C>T	NP_001336277.1:p.Pro28Leu
NM_001349349.1:c.344C>T	NP_001336278.1:p.Pro115Leu
NM_007198.4:c.239C>T MANE Select	NP_009129.1:p.Pro80Leu
NM_001349346.2:c.239C>T	NP_001336275.1:p.Pro80Leu
NM_001349347.2:c.233C>T	NP_001336276.1:p.Pro78Leu
NM_001349348.2:c.83C>T	NP_001336277.1:p.Pro28Leu