Canonical Allele Identifier: CA581101743

Gene: PLPBP

Linked Data

• dbSNP Id: rs1392868551
• gnomAD v2: 8-37630505-A-C
• gnomAD v3: 8-37772987-A-C
• gnomAD v4: 8-37772987-A-C
• MyVariant Identifiers: chr8:g.37630505A>C (hg19) ; chr8:g.37772987A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772987A>C , CM000670.2:g.37772987A>C	GRCh38
NC_000008.10:g.37630505A>C , CM000670.1:g.37630505A>C	GRCh37
NC_000008.9:g.37749663A>C	NCBI36
NG_053030.1:g.16235A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.454+98A>C MANE Select	ENSP00000333551.3:n.454+98A>C
ENST00000328195.7:c.454+98A>C	ENSP00000333551.3:n.454+98A>C
ENST00000521631.1:n.137+98A>C
ENST00000523187.5:c.298+98A>C	ENSP00000427886.1:n.298+98A>C
ENST00000523521.1:c.211+98A>C	ENSP00000429425.1:n.211+98A>C
NM_007198.3:c.454+98A>C	NP_009129.1:n.454+98A>C
NM_001349346.1:c.454+98A>C	NP_001336275.1:n.454+98A>C
NM_001349347.1:c.448+98A>C	NP_001336276.1:n.448+98A>C
NM_001349348.1:c.298+98A>C	NP_001336277.1:n.298+98A>C
NM_007198.4:c.454+98A>C MANE Select	NP_009129.1:n.454+98A>C
NM_001349346.2:c.454+98A>C	NP_001336275.1:n.454+98A>C
NM_001349347.2:c.448+98A>C	NP_001336276.1:n.448+98A>C
NM_001349348.2:c.298+98A>C	NP_001336277.1:n.298+98A>C