Canonical Allele Identifier: CA4711155

Gene: PLPBP

Linked Data

• dbSNP Id: rs757083684
• ExAC: 8:37623163 T / C
• gnomAD v2: 8-37623163-T-C
• gnomAD v4: 8-37765645-T-C
• MyVariant Identifiers: chr8:g.37623163T>C (hg19) ; chr8:g.37765645T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765645T>C , CM000670.2:g.37765645T>C	GRCh38
NC_000008.10:g.37623163T>C , CM000670.1:g.37623163T>C	GRCh37
NC_000008.9:g.37742321T>C	NCBI36
NG_053030.1:g.8893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.207+12T>C MANE Select	ENSP00000333551.3:n.207+12T>C
ENST00000328195.7:c.207+12T>C	ENSP00000333551.3:n.207+12T>C
ENST00000518036.5:c.219T>C	ENSP00000428005.1:p.Leu73=
ENST00000520073.5:n.272+12T>C
ENST00000523187.5:c.51+12T>C	ENSP00000427886.1:n.51+12T>C
ENST00000523358.5:c.207+12T>C	ENSP00000427778.1:n.207+12T>C
ENST00000523994.1:n.212+12T>C
NM_007198.3:c.207+12T>C	NP_009129.1:n.207+12T>C
NM_001349346.1:c.207+12T>C	NP_001336275.1:n.207+12T>C
NM_001349347.1:c.207+12T>C	NP_001336276.1:n.207+12T>C
NM_001349348.1:c.51+12T>C	NP_001336277.1:n.51+12T>C
NM_001349349.1:c.312+12T>C	NP_001336278.1:n.312+12T>C
NM_007198.4:c.207+12T>C MANE Select	NP_009129.1:n.207+12T>C
NM_001349346.2:c.207+12T>C	NP_001336275.1:n.207+12T>C
NM_001349347.2:c.207+12T>C	NP_001336276.1:n.207+12T>C
NM_001349348.2:c.51+12T>C	NP_001336277.1:n.51+12T>C