Canonical Allele Identifier: CA636606515
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1360484649
gnomAD v2: 20-56138035-C-A
gnomAD v4: 20-57562979-C-A
MyVariant Identifiers: chr20:g.56138035C>A (hg19) chr20:g.57562979C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562979C>A , CM000682.2:g.57562979C>A GRCh38
NC_000020.10:g.56138035C>A , CM000682.1:g.56138035C>A GRCh37
NC_000020.9:g.55571441C>A NCBI36
NG_008205.1:g.6899C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-49C>A MANE Select ENSP00000319814.4:n.611-49C>A
ENST00000319441.5:c.611-49C>A ENSP00000319814.4:n.611-49C>A
ENST00000467047.1:n.1900C>A
ENST00000470051.1:n.146C>A
ENST00000498194.1:n.553-49C>A
NM_002591.3:c.611-49C>A NP_002582.3:n.611-49C>A
XM_011528839.1:c.215-49C>A XP_011527141.1:n.215-49C>A
XM_024451888.1:c.215-49C>A XP_024307656.1:n.215-49C>A
NM_002591.4:c.611-49C>A MANE Select NP_002582.3:n.611-49C>A
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