Canonical Allele Identifier: CA4711241

Gene: PLPBP

Linked Data

• dbSNP Id: rs375577196
• ExAC: 8:37630437 T / C
• gnomAD v2: 8-37630437-T-C
• gnomAD v3: 8-37772919-T-C
• gnomAD v4: 8-37772919-T-C
• MyVariant Identifiers: chr8:g.37630437T>C (hg19) ; chr8:g.37772919T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772919T>C , CM000670.2:g.37772919T>C	GRCh38
NC_000008.10:g.37630437T>C , CM000670.1:g.37630437T>C	GRCh37
NC_000008.9:g.37749595T>C	NCBI36
NG_053030.1:g.16167T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.454+30T>C MANE Select	ENSP00000333551.3:n.454+30T>C
ENST00000328195.7:c.454+30T>C	ENSP00000333551.3:n.454+30T>C
ENST00000521631.1:n.137+30T>C
ENST00000523187.5:c.298+30T>C	ENSP00000427886.1:n.298+30T>C
ENST00000523521.1:c.211+30T>C	ENSP00000429425.1:n.211+30T>C
NM_007198.3:c.454+30T>C	NP_009129.1:n.454+30T>C
NM_001349346.1:c.454+30T>C	NP_001336275.1:n.454+30T>C
NM_001349347.1:c.448+30T>C	NP_001336276.1:n.448+30T>C
NM_001349348.1:c.298+30T>C	NP_001336277.1:n.298+30T>C
NM_007198.4:c.454+30T>C MANE Select	NP_009129.1:n.454+30T>C
NM_001349346.2:c.454+30T>C	NP_001336275.1:n.454+30T>C
NM_001349347.2:c.448+30T>C	NP_001336276.1:n.448+30T>C
NM_001349348.2:c.298+30T>C	NP_001336277.1:n.298+30T>C