Canonical Allele Identifier: CA511311048
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1231034159
gnomAD v2: 20-56140602-G-A
gnomAD v4: 20-57565546-G-A
MyVariant Identifiers: chr20:g.56140602G>A (hg19) chr20:g.57565546G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565546G>A , CM000682.2:g.57565546G>A GRCh38
NC_000020.10:g.56140602G>A , CM000682.1:g.56140602G>A GRCh37
NC_000020.9:g.55574008G>A NCBI36
NG_008205.1:g.9466G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1611G>A MANE Select ENSP00000319814.4:p.Leu537=
ENST00000319441.5:c.1611G>A ENSP00000319814.4:p.Leu537=
ENST00000467047.1:n.4253G>A
NM_002591.3:c.1611G>A NP_002582.3:p.Leu537=
XM_011528839.1:c.1215G>A XP_011527141.1:p.Leu405=
XM_024451888.1:c.1215G>A XP_024307656.1:p.Leu405=
NM_002591.4:c.1611G>A MANE Select NP_002582.3:p.Leu537=
Search 100 bp 5'
Search 100 bp 3'