Canonical Allele Identifier: CA2716949461

Gene: PLPBP

Linked Data

• dbSNP Id: rs2129774986

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765647C>T , CM000670.2:g.37765647C>T	GRCh38
NC_000008.10:g.37623165C>T , CM000670.1:g.37623165C>T	GRCh37
NC_000008.9:g.37742323C>T	NCBI36
NG_053030.1:g.8895C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.207+14C>T MANE Select	ENSP00000333551.3:n.207+14C>T
ENST00000328195.7:c.207+14C>T	ENSP00000333551.3:n.207+14C>T
ENST00000518036.5:c.221C>T	ENSP00000428005.1:p.Ser74Phe
ENST00000520073.5:n.272+14C>T
ENST00000523187.5:c.51+14C>T	ENSP00000427886.1:n.51+14C>T
ENST00000523358.5:c.207+14C>T	ENSP00000427778.1:n.207+14C>T
ENST00000523994.1:n.212+14C>T
NM_007198.3:c.207+14C>T	NP_009129.1:n.207+14C>T
NM_001349346.1:c.207+14C>T	NP_001336275.1:n.207+14C>T
NM_001349347.1:c.207+14C>T	NP_001336276.1:n.207+14C>T
NM_001349348.1:c.51+14C>T	NP_001336277.1:n.51+14C>T
NM_001349349.1:c.312+14C>T	NP_001336278.1:n.312+14C>T
NM_007198.4:c.207+14C>T MANE Select	NP_009129.1:n.207+14C>T
NM_001349346.2:c.207+14C>T	NP_001336275.1:n.207+14C>T
NM_001349347.2:c.207+14C>T	NP_001336276.1:n.207+14C>T
NM_001349348.2:c.51+14C>T	NP_001336277.1:n.51+14C>T