Canonical Allele Identifier: CA9922416
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs767446122
ExAC: 20:56140503 A / T
gnomAD v2: 20-56140503-A-T
gnomAD v4: 20-57565447-A-T
MyVariant Identifiers: chr20:g.56140503A>T (hg19) chr20:g.57565447A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565447A>T , CM000682.2:g.57565447A>T GRCh38
NC_000020.10:g.56140503A>T , CM000682.1:g.56140503A>T GRCh37
NC_000020.9:g.55573909A>T NCBI36
NG_008205.1:g.9367A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1512A>T MANE Select ENSP00000319814.4:p.Pro504=
ENST00000319441.5:c.1512A>T ENSP00000319814.4:p.Pro504=
ENST00000467047.1:n.4154A>T
NM_002591.3:c.1512A>T NP_002582.3:p.Pro504=
XM_011528839.1:c.1116A>T XP_011527141.1:p.Pro372=
XM_024451888.1:c.1116A>T XP_024307656.1:p.Pro372=
NM_002591.4:c.1512A>T MANE Select NP_002582.3:p.Pro504=
Search 100 bp 5'
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