Canonical Allele Identifier: CA383982092

Gene: PLBD1

Linked Data

• MyVariant Identifiers: chr12:g.14659951A>C (hg19) ; chr12:g.14507017A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507017A>C , CM000674.2:g.14507017A>C	GRCh38
NC_000012.11:g.14659951A>C , CM000674.1:g.14659951A>C	GRCh37
NC_000012.10:g.14551218A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1288T>G MANE Select	ENSP00000240617.5:p.Leu430Val
ENST00000240617.9:c.1288T>G	ENSP00000240617.5:p.Leu430Val
NM_024829.5:c.1288T>G	NP_079105.4:p.Leu430Val
NM_024829.6:c.1288T>G MANE Select	NP_079105.4:p.Leu430Val