Canonical Allele Identifier: CA603609426

Gene: PLBD1

Linked Data

• dbSNP Id: rs1194789891
• gnomAD v2: 12-14659830-G-A
• gnomAD v4: 12-14506896-G-A
• MyVariant Identifiers: chr12:g.14659830G>A (hg19) ; chr12:g.14506896G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506896G>A , CM000674.2:g.14506896G>A	GRCh38
NC_000012.11:g.14659830G>A , CM000674.1:g.14659830G>A	GRCh37
NC_000012.10:g.14551097G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1372+37C>T MANE Select	ENSP00000240617.5:n.1372+37C>T
ENST00000240617.9:c.1372+37C>T	ENSP00000240617.5:n.1372+37C>T
NM_024829.5:c.1372+37C>T	NP_079105.4:n.1372+37C>T
NM_024829.6:c.1372+37C>T MANE Select	NP_079105.4:n.1372+37C>T