Canonical Allele Identifier: CA370667922

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630387T>G (hg19) ; chr8:g.37772869T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772869T>G , CM000670.2:g.37772869T>G	GRCh38
NC_000008.10:g.37630387T>G , CM000670.1:g.37630387T>G	GRCh37
NC_000008.9:g.37749545T>G	NCBI36
NG_053030.1:g.16117T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.434T>G MANE Select	ENSP00000333551.3:p.Ile145Ser
ENST00000328195.7:c.434T>G	ENSP00000333551.3:p.Ile145Ser
ENST00000521631.1:n.117T>G
ENST00000523187.5:c.278T>G	ENSP00000427886.1:p.Ile93Ser
ENST00000523358.5:c.434T>G	ENSP00000427778.1:p.Ile145Ser
ENST00000523521.1:c.191T>G	ENSP00000429425.1:p.Ile64Ser
NM_007198.3:c.434T>G	NP_009129.1:p.Ile145Ser
NM_001349346.1:c.434T>G	NP_001336275.1:p.Ile145Ser
NM_001349347.1:c.428T>G	NP_001336276.1:p.Ile143Ser
NM_001349348.1:c.278T>G	NP_001336277.1:p.Ile93Ser
NM_007198.4:c.434T>G MANE Select	NP_009129.1:p.Ile145Ser
NM_001349346.2:c.434T>G	NP_001336275.1:p.Ile145Ser
NM_001349347.2:c.428T>G	NP_001336276.1:p.Ile143Ser
NM_001349348.2:c.278T>G	NP_001336277.1:p.Ile93Ser