Canonical Allele Identifier: CA2617768400

Gene: PLBD1

Linked Data

• gnomAD v4: 12-14507266-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507266C>G , CM000674.2:g.14507266C>G	GRCh38
NC_000012.11:g.14660200C>G , CM000674.1:g.14660200C>G	GRCh37
NC_000012.10:g.14551467C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000240617.10:c.1187-148G>C MANE Select	ENSP00000240617.5:n.1187-148G>C
ENST00000240617.9:c.1187-148G>C	ENSP00000240617.5:n.1187-148G>C
NM_024829.5:c.1187-148G>C	NP_079105.4:n.1187-148G>C
NM_024829.6:c.1187-148G>C MANE Select	NP_079105.4:n.1187-148G>C