Canonical Allele Identifier: CA2686899823

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37766145-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37766145G>T , CM000670.2:g.37766145G>T	GRCh38
NC_000008.10:g.37623663G>T , CM000670.1:g.37623663G>T	GRCh37
NC_000008.9:g.37742821G>T	NCBI36
NG_053030.1:g.9393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.244-135G>T MANE Select	ENSP00000333551.3:n.244-135G>T
ENST00000328195.7:c.244-135G>T	ENSP00000333551.3:n.244-135G>T
ENST00000518036.5:c.*96-135G>T	ENSP00000428005.1:n.*96-135G>T
ENST00000520073.5:n.309-135G>T
ENST00000523187.5:c.88-135G>T	ENSP00000427886.1:n.88-135G>T
ENST00000523358.5:c.244-135G>T	ENSP00000427778.1:n.244-135G>T
ENST00000523994.1:n.249-135G>T
NM_007198.3:c.244-135G>T	NP_009129.1:n.244-135G>T
NM_001349346.1:c.244-135G>T	NP_001336275.1:n.244-135G>T
NM_001349347.1:c.238-135G>T	NP_001336276.1:n.238-135G>T
NM_001349348.1:c.88-135G>T	NP_001336277.1:n.88-135G>T
NM_001349349.1:c.349-135G>T	NP_001336278.1:n.349-135G>T
NM_007198.4:c.244-135G>T MANE Select	NP_009129.1:n.244-135G>T
NM_001349346.2:c.244-135G>T	NP_001336275.1:n.244-135G>T
NM_001349347.2:c.238-135G>T	NP_001336276.1:n.238-135G>T
NM_001349348.2:c.88-135G>T	NP_001336277.1:n.88-135G>T