Canonical Allele Identifier: CA2686899647

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765795-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765795T>C , CM000670.2:g.37765795T>C	GRCh38
NC_000008.10:g.37623313T>C , CM000670.1:g.37623313T>C	GRCh37
NC_000008.9:g.37742471T>C	NCBI36
NG_053030.1:g.9043T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+49T>C MANE Select	ENSP00000333551.3:n.243+49T>C
ENST00000328195.7:c.243+49T>C	ENSP00000333551.3:n.243+49T>C
ENST00000518036.5:c.*95+49T>C	ENSP00000428005.1:n.*95+49T>C
ENST00000520073.5:n.308+49T>C
ENST00000523187.5:c.87+49T>C	ENSP00000427886.1:n.87+49T>C
ENST00000523358.5:c.243+49T>C	ENSP00000427778.1:n.243+49T>C
ENST00000523994.1:n.248+49T>C
NM_007198.3:c.243+49T>C	NP_009129.1:n.243+49T>C
NM_001349346.1:c.243+49T>C	NP_001336275.1:n.243+49T>C
NM_001349347.1:c.237+49T>C	NP_001336276.1:n.237+49T>C
NM_001349348.1:c.87+49T>C	NP_001336277.1:n.87+49T>C
NM_001349349.1:c.348+49T>C	NP_001336278.1:n.348+49T>C
NM_007198.4:c.243+49T>C MANE Select	NP_009129.1:n.243+49T>C
NM_001349346.2:c.243+49T>C	NP_001336275.1:n.243+49T>C
NM_001349347.2:c.237+49T>C	NP_001336276.1:n.237+49T>C
NM_001349348.2:c.87+49T>C	NP_001336277.1:n.87+49T>C