Canonical Allele Identifier: CA6462506
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs746075599
ExAC: 12:14659948 C / G
gnomAD v2: 12-14659948-C-G
gnomAD v4: 12-14507014-C-G
MyVariant Identifiers: chr12:g.14659948C>G (hg19) chr12:g.14507014C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507014C>G , CM000674.2:g.14507014C>G GRCh38
NC_000012.11:g.14659948C>G , CM000674.1:g.14659948C>G GRCh37
NC_000012.10:g.14551215C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1291G>C MANE Select ENSP00000240617.5:p.Ala431Pro
ENST00000240617.9:c.1291G>C ENSP00000240617.5:p.Ala431Pro
NM_024829.5:c.1291G>C NP_079105.4:p.Ala431Pro
NM_024829.6:c.1291G>C MANE Select NP_079105.4:p.Ala431Pro
Search 100 bp 5'
Search 100 bp 3'