Canonical Allele Identifier: CA409437200
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57565390-C-G
MyVariant Identifiers: chr20:g.56140446C>G (hg19) chr20:g.57565390C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565390C>G , CM000682.2:g.57565390C>G GRCh38
NC_000020.10:g.56140446C>G , CM000682.1:g.56140446C>G GRCh37
NC_000020.9:g.55573852C>G NCBI36
NG_008205.1:g.9310C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1455C>G MANE Select ENSP00000319814.4:p.Phe485Leu
ENST00000319441.5:c.1455C>G ENSP00000319814.4:p.Phe485Leu
ENST00000467047.1:n.4097C>G
ENST00000485958.1:n.579C>G
NM_002591.3:c.1455C>G NP_002582.3:p.Phe485Leu
XM_011528839.1:c.1059C>G XP_011527141.1:p.Phe353Leu
XM_024451888.1:c.1059C>G XP_024307656.1:p.Phe353Leu
NM_002591.4:c.1455C>G MANE Select NP_002582.3:p.Phe485Leu
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