Canonical Allele Identifier: CA4711143

Gene: PLPBP

Linked Data

• dbSNP Id: rs761356496
• ExAC: 8:37623098 G / C
• gnomAD v2: 8-37623098-G-C
• gnomAD v4: 8-37765580-G-C
• MyVariant Identifiers: chr8:g.37623098G>C (hg19) ; chr8:g.37765580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765580G>C , CM000670.2:g.37765580G>C	GRCh38
NC_000008.10:g.37623098G>C , CM000670.1:g.37623098G>C	GRCh37
NC_000008.9:g.37742256G>C	NCBI36
NG_053030.1:g.8828G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.154G>C MANE Select	ENSP00000333551.3:p.Asp52His
ENST00000328195.7:c.154G>C	ENSP00000333551.3:p.Asp52His
ENST00000518036.5:c.154G>C	ENSP00000428005.1:p.Asp52His
ENST00000520073.5:n.219G>C
ENST00000523187.5:c.-3G>C	ENSP00000427886.1:n.-3G>C
ENST00000523358.5:c.154G>C	ENSP00000427778.1:p.Asp52His
ENST00000523994.1:n.159G>C
NM_007198.3:c.154G>C	NP_009129.1:p.Asp52His
NM_001349346.1:c.154G>C	NP_001336275.1:p.Asp52His
NM_001349347.1:c.154G>C	NP_001336276.1:p.Asp52His
NM_001349348.1:c.-3G>C	NP_001336277.1:n.-3G>C
NM_001349349.1:c.259G>C	NP_001336278.1:p.Asp87His
NM_007198.4:c.154G>C MANE Select	NP_009129.1:p.Asp52His
NM_001349346.2:c.154G>C	NP_001336275.1:p.Asp52His
NM_001349347.2:c.154G>C	NP_001336276.1:p.Asp52His
NM_001349348.2:c.-3G>C	NP_001336277.1:n.-3G>C