Canonical Allele Identifier: CA370666833

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623242T>C (hg19) ; chr8:g.37765724T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765724T>C , CM000670.2:g.37765724T>C	GRCh38
NC_000008.10:g.37623242T>C , CM000670.1:g.37623242T>C	GRCh37
NC_000008.9:g.37742400T>C	NCBI36
NG_053030.1:g.8972T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.221T>C MANE Select	ENSP00000333551.3:p.Leu74Pro
ENST00000328195.7:c.221T>C	ENSP00000333551.3:p.Leu74Pro
ENST00000518036.5:c.*73T>C	ENSP00000428005.1:n.*73T>C
ENST00000520073.5:n.286T>C
ENST00000523187.5:c.65T>C	ENSP00000427886.1:p.Leu22Pro
ENST00000523358.5:c.221T>C	ENSP00000427778.1:p.Leu74Pro
ENST00000523994.1:n.226T>C
NM_007198.3:c.221T>C	NP_009129.1:p.Leu74Pro
NM_001349346.1:c.221T>C	NP_001336275.1:p.Leu74Pro
NM_001349347.1:c.215T>C	NP_001336276.1:p.Leu72Pro
NM_001349348.1:c.65T>C	NP_001336277.1:p.Leu22Pro
NM_001349349.1:c.326T>C	NP_001336278.1:p.Leu109Pro
NM_007198.4:c.221T>C MANE Select	NP_009129.1:p.Leu74Pro
NM_001349346.2:c.221T>C	NP_001336275.1:p.Leu74Pro
NM_001349347.2:c.215T>C	NP_001336276.1:p.Leu72Pro
NM_001349348.2:c.65T>C	NP_001336277.1:p.Leu22Pro