Canonical Allele Identifier: CA9922089
Gene: PCK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1234699
ClinVar RCV Id: RCV001621463 RCV001788639
dbSNP Id: rs2070755
ExAC: 20:56138040 G / C
gnomAD v2: 20-56138040-G-C
gnomAD v3: 20-57562984-G-C
gnomAD v4: 20-57562984-G-C
MyVariant Identifiers: chr20:g.56138040G>C (hg19) chr20:g.57562984G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562984G>C , CM000682.2:g.57562984G>C GRCh38
NC_000020.10:g.56138040G>C , CM000682.1:g.56138040G>C GRCh37
NC_000020.9:g.55571446G>C NCBI36
NG_008205.1:g.6904G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-44G>C MANE Select ENSP00000319814.4:n.611-44G>C
ENST00000319441.5:c.611-44G>C ENSP00000319814.4:n.611-44G>C
ENST00000467047.1:n.1905G>C
ENST00000470051.1:n.151G>C
ENST00000498194.1:n.553-44G>C
NM_002591.3:c.611-44G>C NP_002582.3:n.611-44G>C
XM_011528839.1:c.215-44G>C XP_011527141.1:n.215-44G>C
XM_024451888.1:c.215-44G>C XP_024307656.1:n.215-44G>C
NM_002591.4:c.611-44G>C MANE Select NP_002582.3:n.611-44G>C
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