Canonical Allele Identifier: CA383981938
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14506943-C-T
MyVariant Identifiers: chr12:g.14659877C>T (hg19) chr12:g.14506943C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506943C>T , CM000674.2:g.14506943C>T GRCh38
NC_000012.11:g.14659877C>T , CM000674.1:g.14659877C>T GRCh37
NC_000012.10:g.14551144C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1362G>A MANE Select ENSP00000240617.5:p.Met454Ile
ENST00000240617.9:c.1362G>A ENSP00000240617.5:p.Met454Ile
NM_024829.5:c.1362G>A NP_079105.4:p.Met454Ile
NM_024829.6:c.1362G>A MANE Select NP_079105.4:p.Met454Ile
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