Canonical Allele Identifier: CA9922405
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs377174792
ExAC: 20:56140444 T / A
gnomAD v2: 20-56140444-T-A
MyVariant Identifiers: chr20:g.56140444T>A (hg19) chr20:g.57565388T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565388T>A , CM000682.2:g.57565388T>A GRCh38
NC_000020.10:g.56140444T>A , CM000682.1:g.56140444T>A GRCh37
NC_000020.9:g.55573850T>A NCBI36
NG_008205.1:g.9308T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1453T>A MANE Select ENSP00000319814.4:p.Phe485Ile
ENST00000319441.5:c.1453T>A ENSP00000319814.4:p.Phe485Ile
ENST00000467047.1:n.4095T>A
ENST00000485958.1:n.577T>A
NM_002591.3:c.1453T>A NP_002582.3:p.Phe485Ile
XM_011528839.1:c.1057T>A XP_011527141.1:p.Phe353Ile
XM_024451888.1:c.1057T>A XP_024307656.1:p.Phe353Ile
NM_002591.4:c.1453T>A MANE Select NP_002582.3:p.Phe485Ile
Search 100 bp 5'
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