Canonical Allele Identifier: CA370667904

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37630380G>C (hg19) ; chr8:g.37772862G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772862G>C , CM000670.2:g.37772862G>C	GRCh38
NC_000008.10:g.37630380G>C , CM000670.1:g.37630380G>C	GRCh37
NC_000008.9:g.37749538G>C	NCBI36
NG_053030.1:g.16110G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.427G>C MANE Select	ENSP00000333551.3:p.Val143Leu
ENST00000328195.7:c.427G>C	ENSP00000333551.3:p.Val143Leu
ENST00000518036.5:c.*279G>C	ENSP00000428005.1:n.*279G>C
ENST00000521631.1:n.110G>C
ENST00000523187.5:c.271G>C	ENSP00000427886.1:p.Val91Leu
ENST00000523358.5:c.427G>C	ENSP00000427778.1:p.Val143Leu
ENST00000523521.1:c.184G>C	ENSP00000429425.1:p.Val62Leu
NM_007198.3:c.427G>C	NP_009129.1:p.Val143Leu
NM_001349346.1:c.427G>C	NP_001336275.1:p.Val143Leu
NM_001349347.1:c.421G>C	NP_001336276.1:p.Val141Leu
NM_001349348.1:c.271G>C	NP_001336277.1:p.Val91Leu
NM_007198.4:c.427G>C MANE Select	NP_009129.1:p.Val143Leu
NM_001349346.2:c.427G>C	NP_001336275.1:p.Val143Leu
NM_001349347.2:c.421G>C	NP_001336276.1:p.Val141Leu
NM_001349348.2:c.271G>C	NP_001336277.1:p.Val91Leu