Canonical Allele Identifier: CA409437159
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565370C>G , CM000682.2:g.57565370C>G GRCh38
NC_000020.10:g.56140426C>G , CM000682.1:g.56140426C>G GRCh37
NC_000020.9:g.55573832C>G NCBI36
NG_008205.1:g.9290C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1435C>G MANE Select ENSP00000319814.4:p.Pro479Ala
ENST00000319441.5:c.1435C>G ENSP00000319814.4:p.Pro479Ala
ENST00000467047.1:n.4077C>G
ENST00000485958.1:n.559C>G
NM_002591.3:c.1435C>G NP_002582.3:p.Pro479Ala
XM_011528839.1:c.1039C>G XP_011527141.1:p.Pro347Ala
XM_024451888.1:c.1039C>G XP_024307656.1:p.Pro347Ala
NM_002591.4:c.1435C>G MANE Select NP_002582.3:p.Pro479Ala