Canonical Allele Identifier: CA409437585
Gene: PCK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.56140614C>A (hg19) chr20:g.57565558C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565558C>A , CM000682.2:g.57565558C>A GRCh38
NC_000020.10:g.56140614C>A , CM000682.1:g.56140614C>A GRCh37
NC_000020.9:g.55574020C>A NCBI36
NG_008205.1:g.9478C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1623C>A MANE Select ENSP00000319814.4:p.Phe541Leu
ENST00000319441.5:c.1623C>A ENSP00000319814.4:p.Phe541Leu
ENST00000467047.1:n.4265C>A
NM_002591.3:c.1623C>A NP_002582.3:p.Phe541Leu
XM_011528839.1:c.1227C>A XP_011527141.1:p.Phe409Leu
XM_024451888.1:c.1227C>A XP_024307656.1:p.Phe409Leu
NM_002591.4:c.1623C>A MANE Select NP_002582.3:p.Phe541Leu
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