Canonical Allele Identifier: CA511310878
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1223860382
gnomAD v2: 20-56137846-G-T
gnomAD v3: 20-57562790-G-T
gnomAD v4: 20-57562790-G-T
MyVariant Identifiers: chr20:g.56137846G>T (hg19) chr20:g.57562790G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562790G>T , CM000682.2:g.57562790G>T GRCh38
NC_000020.10:g.56137846G>T , CM000682.1:g.56137846G>T GRCh37
NC_000020.9:g.55571252G>T NCBI36
NG_008205.1:g.6710G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.501G>T MANE Select ENSP00000319814.4:p.Val167=
ENST00000319441.5:c.501G>T ENSP00000319814.4:p.Val167=
ENST00000467047.1:n.1711G>T
ENST00000498194.1:n.443G>T
NM_002591.3:c.501G>T NP_002582.3:p.Val167=
XM_011528839.1:c.105G>T XP_011527141.1:p.Val35=
XM_024451888.1:c.105G>T XP_024307656.1:p.Val35=
NM_002591.4:c.501G>T MANE Select NP_002582.3:p.Val167=
Search 100 bp 5'
Search 100 bp 3'