Canonical Allele Identifier: CA9922086
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs762876259
ExAC: 20:56138007 G / A
gnomAD v2: 20-56138007-G-A
gnomAD v3: 20-57562951-G-A
gnomAD v4: 20-57562951-G-A
MyVariant Identifiers: chr20:g.56138007G>A (hg19) chr20:g.57562951G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562951G>A , CM000682.2:g.57562951G>A GRCh38
NC_000020.10:g.56138007G>A , CM000682.1:g.56138007G>A GRCh37
NC_000020.9:g.55571413G>A NCBI36
NG_008205.1:g.6871G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.610+52G>A MANE Select ENSP00000319814.4:n.610+52G>A
ENST00000319441.5:c.610+52G>A ENSP00000319814.4:n.610+52G>A
ENST00000467047.1:n.1872G>A
ENST00000470051.1:n.118G>A
ENST00000498194.1:n.552+52G>A
NM_002591.3:c.610+52G>A NP_002582.3:n.610+52G>A
XM_011528839.1:c.214+52G>A XP_011527141.1:n.214+52G>A
XM_024451888.1:c.214+52G>A XP_024307656.1:n.214+52G>A
NM_002591.4:c.610+52G>A MANE Select NP_002582.3:n.610+52G>A
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