Canonical Allele Identifier: CA4711220

Gene: PLPBP

Linked Data

• dbSNP Id: rs757706287
• ExAC: 8:37630318 T / A
• gnomAD v2: 8-37630318-T-A
• gnomAD v4: 8-37772800-T-A
• MyVariant Identifiers: chr8:g.37630318T>A (hg19) ; chr8:g.37772800T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772800T>A , CM000670.2:g.37772800T>A	GRCh38
NC_000008.10:g.37630318T>A , CM000670.1:g.37630318T>A	GRCh37
NC_000008.9:g.37749476T>A	NCBI36
NG_053030.1:g.16048T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.365T>A MANE Select	ENSP00000333551.3:p.Leu122Ter
ENST00000328195.7:c.365T>A	ENSP00000333551.3:p.Leu122Ter
ENST00000518036.5:c.*217T>A	ENSP00000428005.1:n.*217T>A
ENST00000521631.1:n.48T>A
ENST00000523187.5:c.209T>A	ENSP00000427886.1:p.Leu70Ter
ENST00000523358.5:c.365T>A	ENSP00000427778.1:p.Leu122Ter
ENST00000523521.1:c.122T>A	ENSP00000429425.1:p.Leu41Ter
NM_007198.3:c.365T>A	NP_009129.1:p.Leu122Ter
NM_001349346.1:c.365T>A	NP_001336275.1:p.Leu122Ter
NM_001349347.1:c.359T>A	NP_001336276.1:p.Leu120Ter
NM_001349348.1:c.209T>A	NP_001336277.1:p.Leu70Ter
NM_007198.4:c.365T>A MANE Select	NP_009129.1:p.Leu122Ter
NM_001349346.2:c.365T>A	NP_001336275.1:p.Leu122Ter
NM_001349347.2:c.359T>A	NP_001336276.1:p.Leu120Ter
NM_001349348.2:c.209T>A	NP_001336277.1:p.Leu70Ter