Canonical Allele Identifier: CA409435257
Gene: PCK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.56137912T>G (hg19) chr20:g.57562856T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562856T>G , CM000682.2:g.57562856T>G GRCh38
NC_000020.10:g.56137912T>G , CM000682.1:g.56137912T>G GRCh37
NC_000020.9:g.55571318T>G NCBI36
NG_008205.1:g.6776T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.567T>G MANE Select ENSP00000319814.4:p.Phe189Leu
ENST00000319441.5:c.567T>G ENSP00000319814.4:p.Phe189Leu
ENST00000467047.1:n.1777T>G
ENST00000470051.1:n.23T>G
ENST00000498194.1:n.509T>G
NM_002591.3:c.567T>G NP_002582.3:p.Phe189Leu
XM_011528839.1:c.171T>G XP_011527141.1:p.Phe57Leu
XM_024451888.1:c.171T>G XP_024307656.1:p.Phe57Leu
NM_002591.4:c.567T>G MANE Select NP_002582.3:p.Phe189Leu
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