Canonical Allele Identifier: CA370666843

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623247A>C (hg19) ; chr8:g.37765729A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765729A>C , CM000670.2:g.37765729A>C	GRCh38
NC_000008.10:g.37623247A>C , CM000670.1:g.37623247A>C	GRCh37
NC_000008.9:g.37742405A>C	NCBI36
NG_053030.1:g.8977A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.226A>C MANE Select	ENSP00000333551.3:p.Lys76Gln
ENST00000328195.7:c.226A>C	ENSP00000333551.3:p.Lys76Gln
ENST00000518036.5:c.*78A>C	ENSP00000428005.1:n.*78A>C
ENST00000520073.5:n.291A>C
ENST00000523187.5:c.70A>C	ENSP00000427886.1:p.Lys24Gln
ENST00000523358.5:c.226A>C	ENSP00000427778.1:p.Lys76Gln
ENST00000523994.1:n.231A>C
NM_007198.3:c.226A>C	NP_009129.1:p.Lys76Gln
NM_001349346.1:c.226A>C	NP_001336275.1:p.Lys76Gln
NM_001349347.1:c.220A>C	NP_001336276.1:p.Lys74Gln
NM_001349348.1:c.70A>C	NP_001336277.1:p.Lys24Gln
NM_001349349.1:c.331A>C	NP_001336278.1:p.Lys111Gln
NM_007198.4:c.226A>C MANE Select	NP_009129.1:p.Lys76Gln
NM_001349346.2:c.226A>C	NP_001336275.1:p.Lys76Gln
NM_001349347.2:c.220A>C	NP_001336276.1:p.Lys74Gln
NM_001349348.2:c.70A>C	NP_001336277.1:p.Lys24Gln