Canonical Allele Identifier: CA460359009

Gene: PLPBP

Linked Data

• MyVariant Identifiers: chr8:g.37623240G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765722G>C , CM000670.2:g.37765722G>C	GRCh38
NC_000008.10:g.37623240G>C , CM000670.1:g.37623240G>C	GRCh37
NC_000008.9:g.37742398G>C	NCBI36
NG_053030.1:g.8970G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.219G>C MANE Select	ENSP00000333551.3:p.Leu73=
ENST00000328195.7:c.219G>C	ENSP00000333551.3:p.Leu73=
ENST00000518036.5:c.*71G>C	ENSP00000428005.1:n.*71G>C
ENST00000520073.5:n.284G>C
ENST00000523187.5:c.63G>C	ENSP00000427886.1:p.Leu21=
ENST00000523358.5:c.219G>C	ENSP00000427778.1:p.Leu73=
ENST00000523994.1:n.224G>C
NM_007198.3:c.219G>C	NP_009129.1:p.Leu73=
NM_001349346.1:c.219G>C	NP_001336275.1:p.Leu73=
NM_001349347.1:c.213G>C	NP_001336276.1:p.Leu71=
NM_001349348.1:c.63G>C	NP_001336277.1:p.Leu21=
NM_001349349.1:c.324G>C	NP_001336278.1:p.Leu108=
NM_007198.4:c.219G>C MANE Select	NP_009129.1:p.Leu73=
NM_001349346.2:c.219G>C	NP_001336275.1:p.Leu73=
NM_001349347.2:c.213G>C	NP_001336276.1:p.Leu71=
NM_001349348.2:c.63G>C	NP_001336277.1:p.Leu21=