Canonical Allele Identifier: CA383982133
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1237672368
gnomAD v2: 12-14659967-C-G
gnomAD v3: 12-14507033-C-G
gnomAD v4: 12-14507033-C-G
MyVariant Identifiers: chr12:g.14659967C>G (hg19) chr12:g.14507033C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507033C>G , CM000674.2:g.14507033C>G GRCh38
NC_000012.11:g.14659967C>G , CM000674.1:g.14659967C>G GRCh37
NC_000012.10:g.14551234C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1272G>C MANE Select ENSP00000240617.5:p.Leu424Phe
ENST00000240617.9:c.1272G>C ENSP00000240617.5:p.Leu424Phe
NM_024829.5:c.1272G>C NP_079105.4:p.Leu424Phe
NM_024829.6:c.1272G>C MANE Select NP_079105.4:p.Leu424Phe
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