Canonical Allele Identifier: CA370667895

Gene: PLPBP

Linked Data

• dbSNP Id: rs1803811125
• MyVariant Identifiers: chr8:g.37630377A>G (hg19) ; chr8:g.37772859A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772859A>G , CM000670.2:g.37772859A>G	GRCh38
NC_000008.10:g.37630377A>G , CM000670.1:g.37630377A>G	GRCh37
NC_000008.9:g.37749535A>G	NCBI36
NG_053030.1:g.16107A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.424A>G MANE Select	ENSP00000333551.3:p.Met142Val
ENST00000328195.7:c.424A>G	ENSP00000333551.3:p.Met142Val
ENST00000518036.5:c.*276A>G	ENSP00000428005.1:n.*276A>G
ENST00000521631.1:n.107A>G
ENST00000523187.5:c.268A>G	ENSP00000427886.1:p.Met90Val
ENST00000523358.5:c.424A>G	ENSP00000427778.1:p.Met142Val
ENST00000523521.1:c.181A>G	ENSP00000429425.1:p.Met61Val
NM_007198.3:c.424A>G	NP_009129.1:p.Met142Val
NM_001349346.1:c.424A>G	NP_001336275.1:p.Met142Val
NM_001349347.1:c.418A>G	NP_001336276.1:p.Met140Val
NM_001349348.1:c.268A>G	NP_001336277.1:p.Met90Val
NM_007198.4:c.424A>G MANE Select	NP_009129.1:p.Met142Val
NM_001349346.2:c.424A>G	NP_001336275.1:p.Met142Val
NM_001349347.2:c.418A>G	NP_001336276.1:p.Met140Val
NM_001349348.2:c.268A>G	NP_001336277.1:p.Met90Val