Canonical Allele Identifier: CA511310838
Gene: PCK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.56137792G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562736G>A , CM000682.2:g.57562736G>A GRCh38
NC_000020.10:g.56137792G>A , CM000682.1:g.56137792G>A GRCh37
NC_000020.9:g.55571198G>A NCBI36
NG_008205.1:g.6656G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.447G>A MANE Select ENSP00000319814.4:p.Leu149=
ENST00000319441.5:c.447G>A ENSP00000319814.4:p.Leu149=
ENST00000467047.1:n.1657G>A
ENST00000498194.1:n.389G>A
NM_002591.3:c.447G>A NP_002582.3:p.Leu149=
XM_011528839.1:c.51G>A XP_011527141.1:p.Leu17=
XM_024451888.1:c.51G>A XP_024307656.1:p.Leu17=
NM_002591.4:c.447G>A MANE Select NP_002582.3:p.Leu149=