Canonical Allele Identifier: CA316282312
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs536650413
gnomAD v3: 20-57565531-G-T
gnomAD v4: 20-57565531-G-T
MyVariant Identifiers: chr20:g.56140587G>T (hg19) chr20:g.57565531G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565531G>T , CM000682.2:g.57565531G>T GRCh38
NC_000020.10:g.56140587G>T , CM000682.1:g.56140587G>T GRCh37
NC_000020.9:g.55573993G>T NCBI36
NG_008205.1:g.9451G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1596G>T MANE Select ENSP00000319814.4:p.Glu532Asp
ENST00000319441.5:c.1596G>T ENSP00000319814.4:p.Glu532Asp
ENST00000467047.1:n.4238G>T
NM_002591.3:c.1596G>T NP_002582.3:p.Glu532Asp
XM_011528839.1:c.1200G>T XP_011527141.1:p.Glu400Asp
XM_024451888.1:c.1200G>T XP_024307656.1:p.Glu400Asp
NM_002591.4:c.1596G>T MANE Select NP_002582.3:p.Glu532Asp
Search 100 bp 5'
Search 100 bp 3'