Canonical Allele Identifier: CA4711157

Gene: PLPBP

Linked Data

• dbSNP Id: rs750361013
• ExAC: 8:37623184 A / C
• gnomAD v2: 8-37623184-A-C
• gnomAD v3: 8-37765666-A-C
• gnomAD v4: 8-37765666-A-C
• MyVariant Identifiers: chr8:g.37623184A>C (hg19) ; chr8:g.37765666A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765666A>C , CM000670.2:g.37765666A>C	GRCh38
NC_000008.10:g.37623184A>C , CM000670.1:g.37623184A>C	GRCh37
NC_000008.9:g.37742342A>C	NCBI36
NG_053030.1:g.8914A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328195.8:c.207+33A>C MANE Select	ENSP00000333551.3:n.207+33A>C
ENST00000328195.7:c.207+33A>C	ENSP00000333551.3:n.207+33A>C
ENST00000518036.5:c.*15A>C	ENSP00000428005.1:n.*15A>C
ENST00000520073.5:n.272+33A>C
ENST00000523187.5:c.51+33A>C	ENSP00000427886.1:n.51+33A>C
ENST00000523358.5:c.207+33A>C	ENSP00000427778.1:n.207+33A>C
ENST00000523994.1:n.212+33A>C
NM_007198.3:c.207+33A>C	NP_009129.1:n.207+33A>C
NM_001349346.1:c.207+33A>C	NP_001336275.1:n.207+33A>C
NM_001349347.1:c.207+33A>C	NP_001336276.1:n.207+33A>C
NM_001349348.1:c.51+33A>C	NP_001336277.1:n.51+33A>C
NM_001349349.1:c.312+33A>C	NP_001336278.1:n.312+33A>C
NM_007198.4:c.207+33A>C MANE Select	NP_009129.1:n.207+33A>C
NM_001349346.2:c.207+33A>C	NP_001336275.1:n.207+33A>C
NM_001349347.2:c.207+33A>C	NP_001336276.1:n.207+33A>C
NM_001349348.2:c.51+33A>C	NP_001336277.1:n.51+33A>C