Canonical Allele Identifier: CA409437578
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565555G>T , CM000682.2:g.57565555G>T GRCh38
NC_000020.10:g.56140611G>T , CM000682.1:g.56140611G>T GRCh37
NC_000020.9:g.55574017G>T NCBI36
NG_008205.1:g.9475G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1620G>T MANE Select ENSP00000319814.4:p.Met540Ile
ENST00000319441.5:c.1620G>T ENSP00000319814.4:p.Met540Ile
ENST00000467047.1:n.4262G>T
NM_002591.3:c.1620G>T NP_002582.3:p.Met540Ile
XM_011528839.1:c.1224G>T XP_011527141.1:p.Met408Ile
XM_024451888.1:c.1224G>T XP_024307656.1:p.Met408Ile
NM_002591.4:c.1620G>T MANE Select NP_002582.3:p.Met540Ile