Canonical Allele Identifier: CA409435195
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2146527714
gnomAD v4: 20-57562825-C-T
MyVariant Identifiers: chr20:g.56137881C>T (hg19) chr20:g.57562825C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562825C>T , CM000682.2:g.57562825C>T GRCh38
NC_000020.10:g.56137881C>T , CM000682.1:g.56137881C>T GRCh37
NC_000020.9:g.55571287C>T NCBI36
NG_008205.1:g.6745C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.536C>T MANE Select ENSP00000319814.4:p.Pro179Leu
ENST00000319441.5:c.536C>T ENSP00000319814.4:p.Pro179Leu
ENST00000467047.1:n.1746C>T
ENST00000498194.1:n.478C>T
NM_002591.3:c.536C>T NP_002582.3:p.Pro179Leu
XM_011528839.1:c.140C>T XP_011527141.1:p.Pro47Leu
XM_024451888.1:c.140C>T XP_024307656.1:p.Pro47Leu
NM_002591.4:c.536C>T MANE Select NP_002582.3:p.Pro179Leu
Search 100 bp 5'
Search 100 bp 3'