Canonical Allele Identifier: CA511311167
Gene: PCK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.56140737G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565681G>A , CM000682.2:g.57565681G>A GRCh38
NC_000020.10:g.56140737G>A , CM000682.1:g.56140737G>A GRCh37
NC_000020.9:g.55574143G>A NCBI36
NG_008205.1:g.9601G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1746G>A MANE Select ENSP00000319814.4:p.Lys582=
ENST00000319441.5:c.1746G>A ENSP00000319814.4:p.Lys582=
ENST00000467047.1:n.4388G>A
NM_002591.3:c.1746G>A NP_002582.3:p.Lys582=
XM_011528839.1:c.1350G>A XP_011527141.1:p.Lys450=
XM_024451888.1:c.1350G>A XP_024307656.1:p.Lys450=
NM_002591.4:c.1746G>A MANE Select NP_002582.3:p.Lys582=