Canonical Allele Identifier: CA9922093
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs764729698
ExAC: 20:56138052 C / T
gnomAD v2: 20-56138052-C-T
gnomAD v3: 20-57562996-C-T
gnomAD v4: 20-57562996-C-T
MyVariant Identifiers: chr20:g.56138052C>T (hg19) chr20:g.57562996C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562996C>T , CM000682.2:g.57562996C>T GRCh38
NC_000020.10:g.56138052C>T , CM000682.1:g.56138052C>T GRCh37
NC_000020.9:g.55571458C>T NCBI36
NG_008205.1:g.6916C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-32C>T MANE Select ENSP00000319814.4:n.611-32C>T
ENST00000319441.5:c.611-32C>T ENSP00000319814.4:n.611-32C>T
ENST00000467047.1:n.1917C>T
ENST00000470051.1:n.163C>T
ENST00000498194.1:n.553-32C>T
NM_002591.3:c.611-32C>T NP_002582.3:n.611-32C>T
XM_011528839.1:c.215-32C>T XP_011527141.1:n.215-32C>T
XM_024451888.1:c.215-32C>T XP_024307656.1:n.215-32C>T
NM_002591.4:c.611-32C>T MANE Select NP_002582.3:n.611-32C>T
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