Canonical Allele Identifier: CA370667898

Gene: PLPBP

Linked Data

• dbSNP Id: rs1803811243
• gnomAD v3: 8-37772860-T-C
• gnomAD v4: 8-37772860-T-C
• MyVariant Identifiers: chr8:g.37630378T>C (hg19) ; chr8:g.37772860T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772860T>C , CM000670.2:g.37772860T>C	GRCh38
NC_000008.10:g.37630378T>C , CM000670.1:g.37630378T>C	GRCh37
NC_000008.9:g.37749536T>C	NCBI36
NG_053030.1:g.16108T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.425T>C MANE Select	ENSP00000333551.3:p.Met142Thr
ENST00000328195.7:c.425T>C	ENSP00000333551.3:p.Met142Thr
ENST00000518036.5:c.*277T>C	ENSP00000428005.1:n.*277T>C
ENST00000521631.1:n.108T>C
ENST00000523187.5:c.269T>C	ENSP00000427886.1:p.Met90Thr
ENST00000523358.5:c.425T>C	ENSP00000427778.1:p.Met142Thr
ENST00000523521.1:c.182T>C	ENSP00000429425.1:p.Met61Thr
NM_007198.3:c.425T>C	NP_009129.1:p.Met142Thr
NM_001349346.1:c.425T>C	NP_001336275.1:p.Met142Thr
NM_001349347.1:c.419T>C	NP_001336276.1:p.Met140Thr
NM_001349348.1:c.269T>C	NP_001336277.1:p.Met90Thr
NM_007198.4:c.425T>C MANE Select	NP_009129.1:p.Met142Thr
NM_001349346.2:c.425T>C	NP_001336275.1:p.Met142Thr
NM_001349347.2:c.419T>C	NP_001336276.1:p.Met140Thr
NM_001349348.2:c.269T>C	NP_001336277.1:p.Met90Thr