Canonical Allele Identifier: CA409437177
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57565379-A-T
MyVariant Identifiers: chr20:g.56140435A>T (hg19) chr20:g.57565379A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565379A>T , CM000682.2:g.57565379A>T GRCh38
NC_000020.10:g.56140435A>T , CM000682.1:g.56140435A>T GRCh37
NC_000020.9:g.55573841A>T NCBI36
NG_008205.1:g.9299A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1444A>T MANE Select ENSP00000319814.4:p.Met482Leu
ENST00000319441.5:c.1444A>T ENSP00000319814.4:p.Met482Leu
ENST00000467047.1:n.4086A>T
ENST00000485958.1:n.568A>T
NM_002591.3:c.1444A>T NP_002582.3:p.Met482Leu
XM_011528839.1:c.1048A>T XP_011527141.1:p.Met350Leu
XM_024451888.1:c.1048A>T XP_024307656.1:p.Met350Leu
NM_002591.4:c.1444A>T MANE Select NP_002582.3:p.Met482Leu
Search 100 bp 5'
Search 100 bp 3'