Canonical Allele Identifier: CA9922402
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs763513290
ExAC: 20:56140438 C / T
gnomAD v2: 20-56140438-C-T
gnomAD v4: 20-57565382-C-T
MyVariant Identifiers: chr20:g.56140438C>T (hg19) chr20:g.57565382C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565382C>T , CM000682.2:g.57565382C>T GRCh38
NC_000020.10:g.56140438C>T , CM000682.1:g.56140438C>T GRCh37
NC_000020.9:g.55573844C>T NCBI36
NG_008205.1:g.9302C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1447C>T MANE Select ENSP00000319814.4:p.Arg483Trp
ENST00000319441.5:c.1447C>T ENSP00000319814.4:p.Arg483Trp
ENST00000467047.1:n.4089C>T
ENST00000485958.1:n.571C>T
NM_002591.3:c.1447C>T NP_002582.3:p.Arg483Trp
XM_011528839.1:c.1051C>T XP_011527141.1:p.Arg351Trp
XM_024451888.1:c.1051C>T XP_024307656.1:p.Arg351Trp
NM_002591.4:c.1447C>T MANE Select NP_002582.3:p.Arg483Trp
Search 100 bp 5'
Search 100 bp 3'