Canonical Allele Identifier: CA9922041
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs770190877
ExAC: 20:56137856 C / A
gnomAD v2: 20-56137856-C-A
gnomAD v3: 20-57562800-C-A
gnomAD v4: 20-57562800-C-A
MyVariant Identifiers: chr20:g.56137856C>A (hg19) chr20:g.57562800C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562800C>A , CM000682.2:g.57562800C>A GRCh38
NC_000020.10:g.56137856C>A , CM000682.1:g.56137856C>A GRCh37
NC_000020.9:g.55571262C>A NCBI36
NG_008205.1:g.6720C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.511C>A MANE Select ENSP00000319814.4:p.Arg171=
ENST00000319441.5:c.511C>A ENSP00000319814.4:p.Arg171=
ENST00000467047.1:n.1721C>A
ENST00000498194.1:n.453C>A
NM_002591.3:c.511C>A NP_002582.3:p.Arg171=
XM_011528839.1:c.115C>A XP_011527141.1:p.Arg39=
XM_024451888.1:c.115C>A XP_024307656.1:p.Arg39=
NM_002591.4:c.511C>A MANE Select NP_002582.3:p.Arg171=
Search 100 bp 5'
Search 100 bp 3'