Canonical Allele Identifier: CA370666684

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765586-G-A
• MyVariant Identifiers: chr8:g.37623104G>A (hg19) ; chr8:g.37765586G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765586G>A , CM000670.2:g.37765586G>A	GRCh38
NC_000008.10:g.37623104G>A , CM000670.1:g.37623104G>A	GRCh37
NC_000008.9:g.37742262G>A	NCBI36
NG_053030.1:g.8834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.160G>A MANE Select	ENSP00000333551.3:p.Val54Met
ENST00000328195.7:c.160G>A	ENSP00000333551.3:p.Val54Met
ENST00000518036.5:c.160G>A	ENSP00000428005.1:p.Val54Met
ENST00000520073.5:n.225G>A
ENST00000523187.5:c.4G>A	ENSP00000427886.1:p.Val2Met
ENST00000523358.5:c.160G>A	ENSP00000427778.1:p.Val54Met
ENST00000523994.1:n.165G>A
NM_007198.3:c.160G>A	NP_009129.1:p.Val54Met
NM_001349346.1:c.160G>A	NP_001336275.1:p.Val54Met
NM_001349347.1:c.160G>A	NP_001336276.1:p.Val54Met
NM_001349348.1:c.4G>A	NP_001336277.1:p.Val2Met
NM_001349349.1:c.265G>A	NP_001336278.1:p.Val89Met
NM_007198.4:c.160G>A MANE Select	NP_009129.1:p.Val54Met
NM_001349346.2:c.160G>A	NP_001336275.1:p.Val54Met
NM_001349347.2:c.160G>A	NP_001336276.1:p.Val54Met
NM_001349348.2:c.4G>A	NP_001336277.1:p.Val2Met