Canonical Allele Identifier: CA383982017

Gene: PLBD1

Linked Data

• dbSNP Id: rs774741858
• gnomAD v2: 12-14659912-T-C
• gnomAD v4: 12-14506978-T-C
• MyVariant Identifiers: chr12:g.14659912T>C (hg19) ; chr12:g.14506978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506978T>C , CM000674.2:g.14506978T>C	GRCh38
NC_000012.11:g.14659912T>C , CM000674.1:g.14659912T>C	GRCh37
NC_000012.10:g.14551179T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1327A>G MANE Select	ENSP00000240617.5:p.Lys443Glu
ENST00000240617.9:c.1327A>G	ENSP00000240617.5:p.Lys443Glu
NM_024829.5:c.1327A>G	NP_079105.4:p.Lys443Glu
NM_024829.6:c.1327A>G MANE Select	NP_079105.4:p.Lys443Glu