Canonical Allele Identifier: CA6462510

Gene: PLBD1

Linked Data

• dbSNP Id: rs138490813
• ExAC: 12:14659991 T / C
• gnomAD v2: 12-14659991-T-C
• gnomAD v3: 12-14507057-T-C
• gnomAD v4: 12-14507057-T-C
• MyVariant Identifiers: chr12:g.14659991T>C (hg19) ; chr12:g.14507057T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507057T>C , CM000674.2:g.14507057T>C	GRCh38
NC_000012.11:g.14659991T>C , CM000674.1:g.14659991T>C	GRCh37
NC_000012.10:g.14551258T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1248A>G MANE Select	ENSP00000240617.5:p.Pro416=
ENST00000240617.9:c.1248A>G	ENSP00000240617.5:p.Pro416=
NM_024829.5:c.1248A>G	NP_079105.4:p.Pro416=
NM_024829.6:c.1248A>G MANE Select	NP_079105.4:p.Pro416=