Canonical Allele Identifier: CA6462498

Gene: PLBD1

Linked Data

• ClinVar Variation Id: 2208042
• ClinVar RCV Id: RCV004070062
• dbSNP Id: rs759241417
• ExAC: 12:14659923 C / T
• gnomAD v2: 12-14659923-C-T
• gnomAD v3: 12-14506989-C-T
• gnomAD v4: 12-14506989-C-T
• COSMIC: COSM4040554
• MyVariant Identifiers: chr12:g.14659923C>T (hg19) ; chr12:g.14506989C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506989C>T , CM000674.2:g.14506989C>T	GRCh38
NC_000012.11:g.14659923C>T , CM000674.1:g.14659923C>T	GRCh37
NC_000012.10:g.14551190C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1316G>A MANE Select	ENSP00000240617.5:p.Arg439His
ENST00000240617.9:c.1316G>A	ENSP00000240617.5:p.Arg439His
NM_024829.5:c.1316G>A	NP_079105.4:p.Arg439His
NM_024829.6:c.1316G>A MANE Select	NP_079105.4:p.Arg439His