Canonical Allele Identifier: CA409434995
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57562721-C-A
COSMIC: COSM6384541 COSM6384542
MyVariant Identifiers: chr20:g.56137777C>A (hg19) chr20:g.57562721C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562721C>A , CM000682.2:g.57562721C>A GRCh38
NC_000020.10:g.56137777C>A , CM000682.1:g.56137777C>A GRCh37
NC_000020.9:g.55571183C>A NCBI36
NG_008205.1:g.6641C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.432C>A MANE Select ENSP00000319814.4:p.Phe144Leu
ENST00000319441.5:c.432C>A ENSP00000319814.4:p.Phe144Leu
ENST00000467047.1:n.1642C>A
ENST00000498194.1:n.374C>A
NM_002591.3:c.432C>A NP_002582.3:p.Phe144Leu
XM_011528839.1:c.36C>A XP_011527141.1:p.Phe12Leu
XM_024451888.1:c.36C>A XP_024307656.1:p.Phe12Leu
NM_002591.4:c.432C>A MANE Select NP_002582.3:p.Phe144Leu
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