Canonical Allele Identifier: CA409437408
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1278787584
gnomAD v2: 20-56140538-G-T
gnomAD v4: 20-57565482-G-T
MyVariant Identifiers: chr20:g.56140538G>T (hg19) chr20:g.57565482G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565482G>T , CM000682.2:g.57565482G>T GRCh38
NC_000020.10:g.56140538G>T , CM000682.1:g.56140538G>T GRCh37
NC_000020.9:g.55573944G>T NCBI36
NG_008205.1:g.9402G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1547G>T MANE Select ENSP00000319814.4:p.Trp516Leu
ENST00000319441.5:c.1547G>T ENSP00000319814.4:p.Trp516Leu
ENST00000467047.1:n.4189G>T
NM_002591.3:c.1547G>T NP_002582.3:p.Trp516Leu
XM_011528839.1:c.1151G>T XP_011527141.1:p.Trp384Leu
XM_024451888.1:c.1151G>T XP_024307656.1:p.Trp384Leu
NM_002591.4:c.1547G>T MANE Select NP_002582.3:p.Trp516Leu
Search 100 bp 5'
Search 100 bp 3'