Canonical Allele Identifier: CA9922335
Gene: PCK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564563C>T , CM000682.2:g.57564563C>T GRCh38
NC_000020.10:g.56139619C>T , CM000682.1:g.56139619C>T GRCh37
NC_000020.9:g.55573025C>T NCBI36
NG_008205.1:g.8483C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1268C>T MANE Select ENSP00000319814.4:p.Pro423Leu
ENST00000319441.5:c.1268C>T ENSP00000319814.4:p.Pro423Leu
ENST00000467047.1:n.3484C>T
ENST00000485958.1:n.392C>T
NM_002591.3:c.1268C>T NP_002582.3:p.Pro423Leu
XM_011528839.1:c.872C>T XP_011527141.1:p.Pro291Leu
XM_024451888.1:c.872C>T XP_024307656.1:p.Pro291Leu
NM_002591.4:c.1268C>T MANE Select NP_002582.3:p.Pro423Leu