Canonical Allele Identifier: CA370666752

Gene: PLPBP

Linked Data

• dbSNP Id: rs1471051563
• gnomAD v3: 8-37765616-A-G
• gnomAD v4: 8-37765616-A-G
• MyVariant Identifiers: chr8:g.37623134A>G (hg19) ; chr8:g.37765616A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765616A>G , CM000670.2:g.37765616A>G	GRCh38
NC_000008.10:g.37623134A>G , CM000670.1:g.37623134A>G	GRCh37
NC_000008.9:g.37742292A>G	NCBI36
NG_053030.1:g.8864A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.190A>G MANE Select	ENSP00000333551.3:p.Thr64Ala
ENST00000328195.7:c.190A>G	ENSP00000333551.3:p.Thr64Ala
ENST00000518036.5:c.190A>G	ENSP00000428005.1:p.Thr64Ala
ENST00000520073.5:n.255A>G
ENST00000523187.5:c.34A>G	ENSP00000427886.1:p.Thr12Ala
ENST00000523358.5:c.190A>G	ENSP00000427778.1:p.Thr64Ala
ENST00000523994.1:n.195A>G
NM_007198.3:c.190A>G	NP_009129.1:p.Thr64Ala
NM_001349346.1:c.190A>G	NP_001336275.1:p.Thr64Ala
NM_001349347.1:c.190A>G	NP_001336276.1:p.Thr64Ala
NM_001349348.1:c.34A>G	NP_001336277.1:p.Thr12Ala
NM_001349349.1:c.295A>G	NP_001336278.1:p.Thr99Ala
NM_007198.4:c.190A>G MANE Select	NP_009129.1:p.Thr64Ala
NM_001349346.2:c.190A>G	NP_001336275.1:p.Thr64Ala
NM_001349347.2:c.190A>G	NP_001336276.1:p.Thr64Ala
NM_001349348.2:c.34A>G	NP_001336277.1:p.Thr12Ala