Canonical Allele Identifier: CA16335387
Gene: PLAG1 HGNC NCBI

Linked Data

dbSNP Id: rs7833986
gnomAD v2: 8-57100149-G-A
gnomAD v3: 8-56187590-G-A
gnomAD v4: 8-56187590-G-A
MyVariant Identifiers: chr8:g.57100149G>A (hg19) chr8:g.56187590G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56187590G>A , CM000670.2:g.56187590G>A GRCh38
NC_000008.10:g.57100149G>A , CM000670.1:g.57100149G>A GRCh37
NC_000008.9:g.57262703G>A NCBI36
NG_023310.1:g.28711C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000316981.8:c.-321-8077C>T MANE Select ENSP00000325546.3:n.-321-8077C>T
ENST00000316981.7:c.-321-8077C>T ENSP00000325546.3:n.-321-8077C>T
ENST00000423799.6:c.-103-16401C>T ENSP00000404067.2:n.-103-16401C>T
ENST00000429357.2:c.-216-16401C>T ENSP00000416537.2:n.-216-16401C>T
NM_001114634.1:c.-216-16401C>T NP_001108106.1:n.-216-16401C>T
NM_001114635.1:c.-103-16401C>T NP_001108107.1:n.-103-16401C>T
NM_002655.2:c.-321-8077C>T NP_002646.2:n.-321-8077C>T
XM_011517544.1:c.-253-16401C>T XP_011515846.1:n.-253-16401C>T
XM_011517544.2:c.-253-16401C>T XP_011515846.1:n.-253-16401C>T
XM_017013576.1:c.-449-8077C>T XP_016869065.1:n.-449-8077C>T
XM_017013577.1:c.-208-8077C>T XP_016869066.1:n.-208-8077C>T
NM_002655.3:c.-321-8077C>T MANE Select NP_002646.2:n.-321-8077C>T
NM_001114634.2:c.-216-16401C>T NP_001108106.1:n.-216-16401C>T
NM_001114635.2:c.-103-16401C>T NP_001108107.1:n.-103-16401C>T
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