Canonical Allele Identifier: CA603609423

Gene: PLBD1

Linked Data

• dbSNP Id: rs771317551
• gnomAD v2: 12-14659825-A-T
• gnomAD v4: 12-14506891-A-T
• MyVariant Identifiers: chr12:g.14659825A>T (hg19) ; chr12:g.14506891A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506891A>T , CM000674.2:g.14506891A>T	GRCh38
NC_000012.11:g.14659825A>T , CM000674.1:g.14659825A>T	GRCh37
NC_000012.10:g.14551092A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1372+42T>A MANE Select	ENSP00000240617.5:n.1372+42T>A
ENST00000240617.9:c.1372+42T>A	ENSP00000240617.5:n.1372+42T>A
NM_024829.5:c.1372+42T>A	NP_079105.4:n.1372+42T>A
NM_024829.6:c.1372+42T>A MANE Select	NP_079105.4:n.1372+42T>A