Canonical Allele Identifier: CA511311074
Gene: PCK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.56140650G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565594G>C , CM000682.2:g.57565594G>C GRCh38
NC_000020.10:g.56140650G>C , CM000682.1:g.56140650G>C GRCh37
NC_000020.9:g.55574056G>C NCBI36
NG_008205.1:g.9514G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1659G>C MANE Select ENSP00000319814.4:p.Thr553=
ENST00000319441.5:c.1659G>C ENSP00000319814.4:p.Thr553=
ENST00000467047.1:n.4301G>C
NM_002591.3:c.1659G>C NP_002582.3:p.Thr553=
XM_011528839.1:c.1263G>C XP_011527141.1:p.Thr421=
XM_024451888.1:c.1263G>C XP_024307656.1:p.Thr421=
NM_002591.4:c.1659G>C MANE Select NP_002582.3:p.Thr553=