Canonical Allele Identifier: CA511311035
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1600708660
gnomAD v3: 20-57565528-A-G
gnomAD v4: 20-57565528-A-G
MyVariant Identifiers: chr20:g.56140584A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565528A>G , CM000682.2:g.57565528A>G GRCh38
NC_000020.10:g.56140584A>G , CM000682.1:g.56140584A>G GRCh37
NC_000020.9:g.55573990A>G NCBI36
NG_008205.1:g.9448A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1593A>G MANE Select ENSP00000319814.4:p.Gly531=
ENST00000319441.5:c.1593A>G ENSP00000319814.4:p.Gly531=
ENST00000467047.1:n.4235A>G
NM_002591.3:c.1593A>G NP_002582.3:p.Gly531=
XM_011528839.1:c.1197A>G XP_011527141.1:p.Gly399=
XM_024451888.1:c.1197A>G XP_024307656.1:p.Gly399=
NM_002591.4:c.1593A>G MANE Select NP_002582.3:p.Gly531=
Search 100 bp 5'
Search 100 bp 3'