Canonical Allele Identifier: CA6462500
Gene: PLBD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2642755
ClinVar RCV Id: RCV003390183
dbSNP Id: rs75778757
ExAC: 12:14659926 C / T
gnomAD v2: 12-14659926-C-T
gnomAD v3: 12-14506992-C-T
gnomAD v4: 12-14506992-C-T
MyVariant Identifiers: chr12:g.14659926C>T (hg19) chr12:g.14506992C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506992C>T , CM000674.2:g.14506992C>T GRCh38
NC_000012.11:g.14659926C>T , CM000674.1:g.14659926C>T GRCh37
NC_000012.10:g.14551193C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1313G>A MANE Select ENSP00000240617.5:p.Arg438Gln
ENST00000240617.9:c.1313G>A ENSP00000240617.5:p.Arg438Gln
NM_024829.5:c.1313G>A NP_079105.4:p.Arg438Gln
NM_024829.6:c.1313G>A MANE Select NP_079105.4:p.Arg438Gln
Search 100 bp 5'
Search 100 bp 3'