Canonical Allele Identifier: CA370667728

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630302G>C (hg19) ; chr8:g.37772784G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772784G>C , CM000670.2:g.37772784G>C	GRCh38
NC_000008.10:g.37630302G>C , CM000670.1:g.37630302G>C	GRCh37
NC_000008.9:g.37749460G>C	NCBI36
NG_053030.1:g.16032G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.349G>C MANE Select	ENSP00000333551.3:p.Val117Leu
ENST00000328195.7:c.349G>C	ENSP00000333551.3:p.Val117Leu
ENST00000518036.5:c.*201G>C	ENSP00000428005.1:n.*201G>C
ENST00000521631.1:n.32G>C
ENST00000523187.5:c.193G>C	ENSP00000427886.1:p.Val65Leu
ENST00000523358.5:c.349G>C	ENSP00000427778.1:p.Val117Leu
ENST00000523521.1:c.106G>C	ENSP00000429425.1:p.Val36Leu
NM_007198.3:c.349G>C	NP_009129.1:p.Val117Leu
NM_001349346.1:c.349G>C	NP_001336275.1:p.Val117Leu
NM_001349347.1:c.343G>C	NP_001336276.1:p.Val115Leu
NM_001349348.1:c.193G>C	NP_001336277.1:p.Val65Leu
NM_007198.4:c.349G>C MANE Select	NP_009129.1:p.Val117Leu
NM_001349346.2:c.349G>C	NP_001336275.1:p.Val117Leu
NM_001349347.2:c.343G>C	NP_001336276.1:p.Val115Leu
NM_001349348.2:c.193G>C	NP_001336277.1:p.Val65Leu