Canonical Allele Identifier: CA233190669
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs944574032
gnomAD v2: 12-14660166-C-T
gnomAD v3: 12-14507232-C-T
gnomAD v4: 12-14507232-C-T
MyVariant Identifiers: chr12:g.14660166C>T (hg19) chr12:g.14507232C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507232C>T , CM000674.2:g.14507232C>T GRCh38
NC_000012.11:g.14660166C>T , CM000674.1:g.14660166C>T GRCh37
NC_000012.10:g.14551433C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-114G>A MANE Select ENSP00000240617.5:n.1187-114G>A
ENST00000240617.9:c.1187-114G>A ENSP00000240617.5:n.1187-114G>A
NM_024829.5:c.1187-114G>A NP_079105.4:n.1187-114G>A
NM_024829.6:c.1187-114G>A MANE Select NP_079105.4:n.1187-114G>A
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