Canonical Allele Identifier: CA511310902
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57562832-G-A
MyVariant Identifiers: chr20:g.56137888G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562832G>A , CM000682.2:g.57562832G>A GRCh38
NC_000020.10:g.56137888G>A , CM000682.1:g.56137888G>A GRCh37
NC_000020.9:g.55571294G>A NCBI36
NG_008205.1:g.6752G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.543G>A MANE Select ENSP00000319814.4:p.Leu181=
ENST00000319441.5:c.543G>A ENSP00000319814.4:p.Leu181=
ENST00000467047.1:n.1753G>A
ENST00000498194.1:n.485G>A
NM_002591.3:c.543G>A NP_002582.3:p.Leu181=
XM_011528839.1:c.147G>A XP_011527141.1:p.Leu49=
XM_024451888.1:c.147G>A XP_024307656.1:p.Leu49=
NM_002591.4:c.543G>A MANE Select NP_002582.3:p.Leu181=
Search 100 bp 5'
Search 100 bp 3'