Canonical Allele Identifier: CA409434996
Gene: PCK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.56137777C>G (hg19) chr20:g.57562721C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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