Canonical Allele Identifier: CA1112848041

Gene: PLPBP

Linked Data

• dbSNP Id: rs1803593204
• gnomAD v3: 8-37765256-A-C
• gnomAD v4: 8-37765256-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765256A>C , CM000670.2:g.37765256A>C	GRCh38
NC_000008.10:g.37622774A>C , CM000670.1:g.37622774A>C	GRCh37
NC_000008.9:g.37741932A>C	NCBI36
NG_053030.1:g.8504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.100-270A>C MANE Select	ENSP00000333551.3:n.100-270A>C
ENST00000328195.7:c.100-270A>C	ENSP00000333551.3:n.100-270A>C
ENST00000518036.5:c.100-270A>C	ENSP00000428005.1:n.100-270A>C
ENST00000520073.5:n.165-270A>C
ENST00000523187.5:c.-57-270A>C	ENSP00000427886.1:n.-57-270A>C
ENST00000523358.5:c.100-270A>C	ENSP00000427778.1:n.100-270A>C
ENST00000523994.1:n.105-270A>C
NM_007198.3:c.100-270A>C	NP_009129.1:n.100-270A>C
NM_001349346.1:c.100-270A>C	NP_001336275.1:n.100-270A>C
NM_001349347.1:c.100-270A>C	NP_001336276.1:n.100-270A>C
NM_001349348.1:c.-57-270A>C	NP_001336277.1:n.-57-270A>C
NM_001349349.1:c.205-270A>C	NP_001336278.1:n.205-270A>C
NM_007198.4:c.100-270A>C MANE Select	NP_009129.1:n.100-270A>C
NM_001349346.2:c.100-270A>C	NP_001336275.1:n.100-270A>C
NM_001349347.2:c.100-270A>C	NP_001336276.1:n.100-270A>C
NM_001349348.2:c.-57-270A>C	NP_001336277.1:n.-57-270A>C