Canonical Allele Identifier: CA9922008
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs371037433
ExAC: 20:56137765 C / T
gnomAD v2: 20-56137765-C-T
gnomAD v3: 20-57562709-C-T
gnomAD v4: 20-57562709-C-T
MyVariant Identifiers: chr20:g.56137765C>T (hg19) chr20:g.57562709C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562709C>T , CM000682.2:g.57562709C>T GRCh38
NC_000020.10:g.56137765C>T , CM000682.1:g.56137765C>T GRCh37
NC_000020.9:g.55571171C>T NCBI36
NG_008205.1:g.6629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.420C>T MANE Select ENSP00000319814.4:p.Tyr140=
ENST00000319441.5:c.420C>T ENSP00000319814.4:p.Tyr140=
ENST00000467047.1:n.1630C>T
ENST00000498194.1:n.362C>T
NM_002591.3:c.420C>T NP_002582.3:p.Tyr140=
XM_011528839.1:c.24C>T XP_011527141.1:p.Tyr8=
XM_024451888.1:c.24C>T XP_024307656.1:p.Tyr8=
NM_002591.4:c.420C>T MANE Select NP_002582.3:p.Tyr140=
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