Canonical Allele Identifier: CA370666848

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623248A>C (hg19) ; chr8:g.37765730A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765730A>C , CM000670.2:g.37765730A>C	GRCh38
NC_000008.10:g.37623248A>C , CM000670.1:g.37623248A>C	GRCh37
NC_000008.9:g.37742406A>C	NCBI36
NG_053030.1:g.8978A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.227A>C MANE Select	ENSP00000333551.3:p.Lys76Thr
ENST00000328195.7:c.227A>C	ENSP00000333551.3:p.Lys76Thr
ENST00000518036.5:c.*79A>C	ENSP00000428005.1:n.*79A>C
ENST00000520073.5:n.292A>C
ENST00000523187.5:c.71A>C	ENSP00000427886.1:p.Lys24Thr
ENST00000523358.5:c.227A>C	ENSP00000427778.1:p.Lys76Thr
ENST00000523994.1:n.232A>C
NM_007198.3:c.227A>C	NP_009129.1:p.Lys76Thr
NM_001349346.1:c.227A>C	NP_001336275.1:p.Lys76Thr
NM_001349347.1:c.221A>C	NP_001336276.1:p.Lys74Thr
NM_001349348.1:c.71A>C	NP_001336277.1:p.Lys24Thr
NM_001349349.1:c.332A>C	NP_001336278.1:p.Lys111Thr
NM_007198.4:c.227A>C MANE Select	NP_009129.1:p.Lys76Thr
NM_001349346.2:c.227A>C	NP_001336275.1:p.Lys76Thr
NM_001349347.2:c.221A>C	NP_001336276.1:p.Lys74Thr
NM_001349348.2:c.71A>C	NP_001336277.1:p.Lys24Thr