Canonical Allele Identifier: CA853430155
Gene: PLAG1 HGNC NCBI

Linked Data

dbSNP Id: rs1330080420
gnomAD v3: 8-56183058-A-G
gnomAD v4: 8-56183058-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.56183058A>G , CM000670.2:g.56183058A>G GRCh38
NC_000008.10:g.57095617A>G , CM000670.1:g.57095617A>G GRCh37
NC_000008.9:g.57258171A>G NCBI36
NG_023310.1:g.33243T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000316981.8:c.-321-3545T>C MANE Select ENSP00000325546.3:n.-321-3545T>C
ENST00000316981.7:c.-321-3545T>C ENSP00000325546.3:n.-321-3545T>C
ENST00000423799.6:c.-103-11869T>C ENSP00000404067.2:n.-103-11869T>C
ENST00000429357.2:c.-216-11869T>C ENSP00000416537.2:n.-216-11869T>C
NM_001114634.1:c.-216-11869T>C NP_001108106.1:n.-216-11869T>C
NM_001114635.1:c.-103-11869T>C NP_001108107.1:n.-103-11869T>C
NM_002655.2:c.-321-3545T>C NP_002646.2:n.-321-3545T>C
XM_011517544.1:c.-253-11869T>C XP_011515846.1:n.-253-11869T>C
XM_011517544.2:c.-253-11869T>C XP_011515846.1:n.-253-11869T>C
XM_017013576.1:c.-449-3545T>C XP_016869065.1:n.-449-3545T>C
XM_017013577.1:c.-208-3545T>C XP_016869066.1:n.-208-3545T>C
NM_002655.3:c.-321-3545T>C MANE Select NP_002646.2:n.-321-3545T>C
NM_001114634.2:c.-216-11869T>C NP_001108106.1:n.-216-11869T>C
NM_001114635.2:c.-103-11869T>C NP_001108107.1:n.-103-11869T>C