Canonical Allele Identifier: CA4711238

Gene: PLPBP

Linked Data

• dbSNP Id: rs368880116
• ExAC: 8:37630422 C / T
• gnomAD v2: 8-37630422-C-T
• gnomAD v3: 8-37772904-C-T
• gnomAD v4: 8-37772904-C-T
• MyVariant Identifiers: chr8:g.37630422C>T (hg19) ; chr8:g.37772904C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772904C>T , CM000670.2:g.37772904C>T	GRCh38
NC_000008.10:g.37630422C>T , CM000670.1:g.37630422C>T	GRCh37
NC_000008.9:g.37749580C>T	NCBI36
NG_053030.1:g.16152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.454+15C>T MANE Select	ENSP00000333551.3:n.454+15C>T
ENST00000328195.7:c.454+15C>T	ENSP00000333551.3:n.454+15C>T
ENST00000521631.1:n.137+15C>T
ENST00000523187.5:c.298+15C>T	ENSP00000427886.1:n.298+15C>T
ENST00000523521.1:c.211+15C>T	ENSP00000429425.1:n.211+15C>T
NM_007198.3:c.454+15C>T	NP_009129.1:n.454+15C>T
NM_001349346.1:c.454+15C>T	NP_001336275.1:n.454+15C>T
NM_001349347.1:c.448+15C>T	NP_001336276.1:n.448+15C>T
NM_001349348.1:c.298+15C>T	NP_001336277.1:n.298+15C>T
NM_007198.4:c.454+15C>T MANE Select	NP_009129.1:n.454+15C>T
NM_001349346.2:c.454+15C>T	NP_001336275.1:n.454+15C>T
NM_001349347.2:c.448+15C>T	NP_001336276.1:n.448+15C>T
NM_001349348.2:c.298+15C>T	NP_001336277.1:n.298+15C>T