Canonical Allele Identifier: CA1018823338
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v3: 20-57563015-T-G
gnomAD v4: 20-57563015-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57563015T>G , CM000682.2:g.57563015T>G GRCh38
NC_000020.10:g.56138071T>G , CM000682.1:g.56138071T>G GRCh37
NC_000020.9:g.55571477T>G NCBI36
NG_008205.1:g.6935T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-13T>G MANE Select ENSP00000319814.4:n.611-13T>G
ENST00000319441.5:c.611-13T>G ENSP00000319814.4:n.611-13T>G
ENST00000467047.1:n.1936T>G
ENST00000470051.1:n.182T>G
ENST00000498194.1:n.553-13T>G
NM_002591.3:c.611-13T>G NP_002582.3:n.611-13T>G
XM_011528839.1:c.215-13T>G XP_011527141.1:n.215-13T>G
XM_024451888.1:c.215-13T>G XP_024307656.1:n.215-13T>G
NM_002591.4:c.611-13T>G MANE Select NP_002582.3:n.611-13T>G
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