Canonical Allele Identifier: CA511310971
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1161707670
gnomAD v2: 20-56140452-C-G
gnomAD v3: 20-57565396-C-G
gnomAD v4: 20-57565396-C-G
MyVariant Identifiers: chr20:g.56140452C>G (hg19) chr20:g.57565396C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565396C>G , CM000682.2:g.57565396C>G GRCh38
NC_000020.10:g.56140452C>G , CM000682.1:g.56140452C>G GRCh37
NC_000020.9:g.55573858C>G NCBI36
NG_008205.1:g.9316C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1461C>G MANE Select ENSP00000319814.4:p.Gly487=
ENST00000319441.5:c.1461C>G ENSP00000319814.4:p.Gly487=
ENST00000467047.1:n.4103C>G
NM_002591.3:c.1461C>G NP_002582.3:p.Gly487=
XM_011528839.1:c.1065C>G XP_011527141.1:p.Gly355=
XM_024451888.1:c.1065C>G XP_024307656.1:p.Gly355=
NM_002591.4:c.1461C>G MANE Select NP_002582.3:p.Gly487=
Search 100 bp 5'
Search 100 bp 3'