Canonical Allele Identifier: CA460358958
Gene: PLPBP HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.37623073G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765555G>T , CM000670.2:g.37765555G>T GRCh38
NC_000008.10:g.37623073G>T , CM000670.1:g.37623073G>T GRCh37
NC_000008.9:g.37742231G>T NCBI36
NG_053030.1:g.8803G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.129G>T MANE Select ENSP00000333551.3:p.Val43=
ENST00000328195.7:c.129G>T ENSP00000333551.3:p.Val43=
ENST00000518036.5:c.129G>T ENSP00000428005.1:p.Val43=
ENST00000520073.5:n.194G>T
ENST00000523187.5:c.-28G>T ENSP00000427886.1:n.-28G>T
ENST00000523358.5:c.129G>T ENSP00000427778.1:p.Val43=
ENST00000523994.1:n.134G>T
NM_007198.3:c.129G>T NP_009129.1:p.Val43=
NM_001349346.1:c.129G>T NP_001336275.1:p.Val43=
NM_001349347.1:c.129G>T NP_001336276.1:p.Val43=
NM_001349348.1:c.-28G>T NP_001336277.1:n.-28G>T
NM_001349349.1:c.234G>T NP_001336278.1:p.Val78=
NM_007198.4:c.129G>T MANE Select NP_009129.1:p.Val43=
NM_001349346.2:c.129G>T NP_001336275.1:p.Val43=
NM_001349347.2:c.129G>T NP_001336276.1:p.Val43=
NM_001349348.2:c.-28G>T NP_001336277.1:n.-28G>T