Canonical Allele Identifier: CA370666638

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765572-A-C
• MyVariant Identifiers: chr8:g.37623090A>C (hg19) ; chr8:g.37765572A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765572A>C , CM000670.2:g.37765572A>C	GRCh38
NC_000008.10:g.37623090A>C , CM000670.1:g.37623090A>C	GRCh37
NC_000008.9:g.37742248A>C	NCBI36
NG_053030.1:g.8820A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.146A>C MANE Select	ENSP00000333551.3:p.Lys49Thr
ENST00000328195.7:c.146A>C	ENSP00000333551.3:p.Lys49Thr
ENST00000518036.5:c.146A>C	ENSP00000428005.1:p.Lys49Thr
ENST00000520073.5:n.211A>C
ENST00000523187.5:c.-11A>C	ENSP00000427886.1:n.-11A>C
ENST00000523358.5:c.146A>C	ENSP00000427778.1:p.Lys49Thr
ENST00000523994.1:n.151A>C
NM_007198.3:c.146A>C	NP_009129.1:p.Lys49Thr
NM_001349346.1:c.146A>C	NP_001336275.1:p.Lys49Thr
NM_001349347.1:c.146A>C	NP_001336276.1:p.Lys49Thr
NM_001349348.1:c.-11A>C	NP_001336277.1:n.-11A>C
NM_001349349.1:c.251A>C	NP_001336278.1:p.Lys84Thr
NM_007198.4:c.146A>C MANE Select	NP_009129.1:p.Lys49Thr
NM_001349346.2:c.146A>C	NP_001336275.1:p.Lys49Thr
NM_001349347.2:c.146A>C	NP_001336276.1:p.Lys49Thr
NM_001349348.2:c.-11A>C	NP_001336277.1:n.-11A>C