Canonical Allele Identifier: CA409437412
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57565483-G-C
MyVariant Identifiers: chr20:g.56140539G>C (hg19) chr20:g.57565483G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565483G>C , CM000682.2:g.57565483G>C GRCh38
NC_000020.10:g.56140539G>C , CM000682.1:g.56140539G>C GRCh37
NC_000020.9:g.55573945G>C NCBI36
NG_008205.1:g.9403G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1548G>C MANE Select ENSP00000319814.4:p.Trp516Cys
ENST00000319441.5:c.1548G>C ENSP00000319814.4:p.Trp516Cys
ENST00000467047.1:n.4190G>C
NM_002591.3:c.1548G>C NP_002582.3:p.Trp516Cys
XM_011528839.1:c.1152G>C XP_011527141.1:p.Trp384Cys
XM_024451888.1:c.1152G>C XP_024307656.1:p.Trp384Cys
NM_002591.4:c.1548G>C MANE Select NP_002582.3:p.Trp516Cys
Search 100 bp 5'
Search 100 bp 3'